diff --git a/gpml/WP4290.gpml b/gpml/WP4290.gpml index 177ec4c..d378e7a 100644 --- a/gpml/WP4290.gpml +++ b/gpml/WP4290.gpml @@ -9,7 +9,7 @@ - + diff --git a/gpml/WP4705.gpml b/gpml/WP4705.gpml index dccb1f6..dc893e3 100644 --- a/gpml/WP4705.gpml +++ b/gpml/WP4705.gpml @@ -3,642 +3,642 @@ Cytosolic DNA and RNA can lead to innate immune sensing via three paths. DNA is sensed by cGAS, which activates STING. RNA is sensed by MDA5 and RIG-I, which activates MAVS. An activation of STING or MAVS lead to phosphorylation of IFR3, which triggers innate immune responses. -This pathway was inspired by Chapter 14 of the 5th edition of the book of Blau (in press). - +This pathway was inspired by Chapter 14 of the 5th edition of the book of Blau. + - - + + - - - + + + - + The presence of ribonucleotides in genomic DNA enhances photodimerization of adjacent pyrimidines, which are repaired by nucleotide excision repair - - + + - - + + - - + + - - + + - - + + - - + + - - + + - - - + + + - - + + - - + + - - + + a42 - - + + cGAS which signals via STING (encoded by TMEM173) - - + + - + Catalytic subunit - - + + Cytosolic deoxyribonuclease anchored in the outer nuclear membrane. A lack of TREX1 causes DNA accumulation, both within the nucleus and the cytosol. - - + + - - + + - - + + - - + + - - + + Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing cb7 a96 - - + + - - + + DNA sensor - - + + mitochondrial antiviral signaling (MAVS) - - + + - - + + Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. - - + + Cytosolic RNA sensor Activating mutations in RIG-I and MDA5 increase receptor affinity resulting in constitutive type I IFN signaling. - - + + cytosolic RNA sensor Activating mutations in RIG-I and MDA5 increase receptor affinity resulting in constitutive type I IFN signaling. - - + + - - + + single-stranded DNA - - + + single-stranded DNA - - + + - - + + - + Noncatalytic subunit - - + + - + Noncatalytic subunit - - + + - - + + single-stranded DNA - - + + single-stranded DNA - - + + SAMHD1 has also ribonuclease activity, suggesting that a loss of SAMHD1 may lead to RNA accumulation. - - + + - - + + - - + + - - + + - - + + - - - + + + - - + + - - + + interferon-responsive genes - - + + - - + + - - + + - - + + - - + + - - + + Ribonucleotide - - + + - - + + - - + + - - + + RNase T2 degrades ribosomal RNA in lysosomes. A lack of RNase T2 causes RNA accumulation which may activate RNA sensors. - - + + - + - - + + - + - - + + - + Upon binding to dsRNA, OAS1 synthesizes 2′–5′-linked oligoadenylates using ATP as substrate, which in turn activate RNase L. - - - + + + - + - - + + - + Activation of RNase L leads to RNA degradation - - + + - + The heterotrimeric RNase H2 maintains genome integrity by removing ribonucleotides misincorporated during DNA replication - - + + - + - - + + - + - - + + - + The presence of ribonucleotides in genomic DNA enhances photodimerization of adjacent pyrimidines - - + + - + Within the cytosol, ssDNA metabolites with stem loops or dsDNA are sensed by the DNA sensor cGAS - - - + + + - + Binds ssDNA and degrades ssDNA derived from DNA repair - - + + - + - - + + - + - - + + - + - - + + - + "A photon causes two consecutive bases (Thymine or Cytosine) on one strand to bind together, destroying the normal base-pairing double-strand structure in that area." Source: [https://en.wikipedia.org/wiki/Pyrimidine_dimer] - - - + + + - + Transcription - - + + - + - - + + - + SAMHD1 degrades deoxynucleoside triphosphates (dNTP) - - - + + + - + induce type I IFN production - - + + - + - - + + - + activates expression of the IFNB gene and numerous interferon-responsive genes (ISG). - - + + - + - - + + - + - - + + - + - - + + - + Phosphorylation of the transcription factor interferon regulatory factor 3 (IRF3) - - - + + + - + ADAR modifies dsRNA through deamination of adenosine to inosine - - - + + + - + - - + + - + - - + + - + short RNA fragments that act as ligand for RIG-I - - + + - + - - + + - + Both RNA sensors, MDA5 and RIG-I signal via mitochondrial antiviral signaling (MAVS) to activate type I IFN - - + + - + - - + + - + Reverse transcribed - - + + - + Binds ssDNA and degrades cDNA from reverse transcription of endogenous retroelements - - + + - + Within the cytosol, ssDNA metabolites with stem loops or dsDNA are sensed by the DNA sensor cGAS - - - + + + - + - - + + - + - - - + + + - + - - + + - + Upon binding to dsRNA, OAS1 synthesizes 2′–5′-linked oligoadenylates using ATP as substrate, which in turn activate RNase L - - - + + + - + Activation of RNase L leads to formation of short RNA fragments that act as ligand for RIG-I - - + + - + Both RNA sensors, MDA5 and RIG-I signal via mitochondrial antiviral signaling (MAVS) to activate type I IFN - - + + - + - - - + + + - - - + + + - - + @@ -664,7 +664,7 @@ de4 - + @@ -711,7 +711,7 @@ de4 - + diff --git a/gpml/WP5506.gpml b/gpml/WP5506.gpml index e90c36e..559186f 100644 --- a/gpml/WP5506.gpml +++ b/gpml/WP5506.gpml @@ -3,7 +3,7 @@ Disorders of Niacin and NAD Metabolism - + @@ -59,7 +59,7 @@ nicotinate mononucleotide - + @@ -72,39 +72,18 @@ - - - - - - - - - - - - - - - - + + - + - - - - - - - @@ -119,6 +98,13 @@ + + + + + + + @@ -126,6 +112,13 @@ + + + + + + + @@ -148,6 +141,13 @@ + + + + + + + @@ -155,6 +155,13 @@ + + + + + + + @@ -315,6 +322,22 @@ Siu VM Dunwoodie SL + + 35637064 + PubMed + NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. + Mol Genet Metab + 2022 + Manor J + Calame D + Gijavanekar C + Fisher K + Hunter J + Mizerik E + Bacino C + Scaglia F + Elsea SH + disease pathway PW:0000013 @@ -362,21 +385,5 @@ Ellard S Hakonarson H - - 35637064 - PubMed - NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. - Mol Genet Metab - 2022 - Manor J - Calame D - Gijavanekar C - Fisher K - Hunter J - Mizerik E - Bacino C - Scaglia F - Elsea SH - \ No newline at end of file diff --git a/reports/WP4290.json b/reports/WP4290.json index 8e8ad3d..6bd18db 100644 --- a/reports/WP4290.json +++ b/reports/WP4290.json @@ -1,6 +1,6 @@ { "schemaVersion": 1, "label": "curation", - "message": "5 issues", + "message": "4 issues", "color": "orange" } diff --git a/reports/WP4290.md b/reports/WP4290.md index 50b50c1..35b9f09 100644 --- a/reports/WP4290.md +++ b/reports/WP4290.md @@ -56,23 +56,7 @@ * PubChemMetabolitesTests: all 3 tests OK! * ReferencesTests: all 6 tests OK! * UniProtTests: all 5 tests OK! -* WikidataTests - * keggWithoutMapping: .. all OK! - * pubchemCIDWithoutMapping: .. all OK! - * hmdbWithoutMapping: .. all OK! - * casWithoutMapping: .. all OK! - * wikDataTypo: .. all OK! - * duplicateWikidataMappings: .. all OK! - * wikidataIdentifiersWrong: .. all OK! - * chemspiderCIDWithoutMapping: .. all OK! - * lipidMapsWithoutMapping: .. all OK! - * kNApSAcKWithoutMapping: .. all OK! - * replaceWikipedia: .. all OK! - * chebiWithoutMapping_Reactome: .. all OK! - * chebiWithoutMapping: .x we found 1 problem(s): - * [ChEBI identifiers without Wikidata mappings: 1](#a8d554cd) - * hmdbWithoutMapping: .. all OK! - * retiredIdentifiers: .. all OK! +* WikidataTests: all 15 tests OK! ## Summary @@ -80,7 +64,7 @@ * Number of test classes: 23 * Number of tests: 121 * Number of assertions: 244 -* Number of fails: 5 +* Number of fails: 4 ## Fails @@ -90,75 +74,75 @@ Interactions without literature references: 69 ``` -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/a3a20 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idd3a00f33 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id89f523ac -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id3f69820b -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/ea3aa -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id98487b94 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/a4b8e -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idef9fda19 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id8b1dc082 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id5b35b607 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/b489b -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id35c246c6 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id73252605 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/da767 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id8050d34f -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id53691a47 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id4397b644 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id5cef3ad2 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/iddf00f9c4 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/de029 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idbe32559c -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id2a1cc8b5 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id1e821c4b -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/f3673 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id94f81660 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/f7726_2 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/a1b2e -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idedcb12b8 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/d63cc -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id5c76343c -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id64a5ad62 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id3741b32a -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/e7453 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id9c3079a8 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/ida23e2577 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idb213e098 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id10285ceb -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/cf66e -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idaa3765c5 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/ec8eb -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/d62a0 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id848eb35 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id6693a213 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/f344e -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id298fdba -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/c27cf_2 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id31578d96 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/d8b05 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/f7726_1 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/e964f -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/a1be5 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/iddc786064 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/f514d_2 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idafe33e6 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/e735c -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id6ff5a5f8 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/f03fb -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id6c9eb540 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id850b408f -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id82ad4764 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idd4026148 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id4b897550 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id46480d5d -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id574f3953 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idc5af421c -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id52cea2d3 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id1235d5f9 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idd1dc58a3 -http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idab9c107 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idb213e098 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/a1be5 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/ida23e2577 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id64a5ad62 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id3741b32a +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/c27cf_2 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id46480d5d +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id5b35b607 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id848eb35 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/a1b2e +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/e7453 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/da767 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idd1dc58a3 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id4b897550 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id298fdba +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id850b408f +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id8b1dc082 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/ec8eb +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id89f523ac +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idedcb12b8 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id5cef3ad2 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/a4b8e +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/ea3aa +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id6c9eb540 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/f7726_2 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idc5af421c +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/d8b05 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id6693a213 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idab9c107 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id94f81660 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id35c246c6 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/f514d_2 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/b489b +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id9c3079a8 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/iddc786064 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id1e821c4b +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idd3a00f33 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id53691a47 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/e735c +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id6ff5a5f8 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/cf66e +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idbe32559c +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idd4026148 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id98487b94 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/e964f +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/de029 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/d62a0 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/iddf00f9c4 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/f7726_1 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id5c76343c +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/f03fb +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/a3a20 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/f344e +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idaa3765c5 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id8050d34f +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id10285ceb +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/d63cc +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id2a1cc8b5 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idef9fda19 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id82ad4764 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id52cea2d3 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/f3673 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idafe33e6 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id31578d96 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id1235d5f9 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id4397b644 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id574f3953 +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id3f69820b +http://classic.wikipathways.org/instance/WP4290_r136156 -> http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id73252605 ``` @@ -167,7 +151,7 @@ http://classic.wikipathways.org/instance/WP4290_r118611 -> http://rdf.wikipathwa Interactions found that involve Labels: 1 ``` -http://classic.wikipathways.org/instance/WP4290_r118611 "pH balance +http://classic.wikipathways.org/instance/WP4290_r136156 "pH balance Nitrogen source" with graphId f0da4 ``` @@ -177,10 +161,10 @@ Nitrogen source" with graphId f0da4 Interactions between identical nodes: 2 ``` -http://classic.wikipathways.org/instance/WP4290_r118611 http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/idd3a00f33 "Lactate" (https://identifiers.org/hmdb/HMDB0000190) and -Lactate" (https://identifiers.org/hmdb/HMDB0000190) -http://classic.wikipathways.org/instance/WP4290_r118611 http://rdf.wikipathways.org/Pathway/WP4290_r118611/WP/Interaction/id35c246c6 "glutamine" (https://identifiers.org/chebi/CHEBI:28300) and +http://classic.wikipathways.org/instance/WP4290_r136156 http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/id35c246c6 "glutamine" (https://identifiers.org/chebi/CHEBI:28300) and glutamine" (https://identifiers.org/chebi/CHEBI:28300) +http://classic.wikipathways.org/instance/WP4290_r136156 http://rdf.wikipathways.org/Pathway/WP4290_r136156/WP/Interaction/idd3a00f33 "Lactate" (https://identifiers.org/hmdb/HMDB0000190) and +Lactate" (https://identifiers.org/hmdb/HMDB0000190) ``` More details at [https://www.wikipathways.org/WikiPathwaysCurator/InteractionTests/possibleTranslocations](https://www.wikipathways.org/WikiPathwaysCurator/InteractionTests/possibleTranslocations) @@ -191,20 +175,9 @@ More details at [https://www.wikipathways.org/WikiPathwaysCurator/InteractionTes Non-zero count of metabolites with more than one InChIKey: 4 ``` -http://classic.wikipathways.org/instance/WP4290_r118611 (example) has: NH3 CHEBI:16134 with InChIKeys: QGZKDVFQNNGYKY-UHFFFAOYSA-N, RUVUHIUYGJBLGI-AXAJWWPKSA-N -http://classic.wikipathways.org/instance/WP4290_r118611 (example) has: Asparagine CHEBI:17196 with InChIKeys: DCXYFEDJOCDNAF-REOHCLBHSA-N, UYPYRKYUKCHHIB-UHFFFAOYSA-N -http://classic.wikipathways.org/instance/WP4290_r118611 (example) has: IMP CHEBI:17202 with InChIKeys: GRSZFWQUAKGDAV-UHFFFAOYSA-N, GRSZFWQUAKGDAV-KQYNXXCUSA-N -http://classic.wikipathways.org/instance/WP4290_r118611 (example) has: glutamine CHEBI:28300 with InChIKeys: ZDXPYRJPNDTMRX-UHFFFAOYSA-N, RSOHUXCZIQMEMQ-JLHYYAGUSA-N -``` - - - -## ChEBI identifier without a match in Wikidata - -ChEBI identifiers without Wikidata mappings: 1 -``` -https://identifiers.org/chebi/CHEBI:45522 (Phosphoserine) does not have a Wikidata mapping in http://classic.wikipathways.org/instance/WP4290_r118611 ; +http://classic.wikipathways.org/instance/WP4290_r136156 (example) has: NH3 CHEBI:16134 with InChIKeys: QGZKDVFQNNGYKY-UHFFFAOYSA-N, RUVUHIUYGJBLGI-AXAJWWPKSA-N +http://classic.wikipathways.org/instance/WP4290_r136156 (example) has: Asparagine CHEBI:17196 with InChIKeys: DCXYFEDJOCDNAF-REOHCLBHSA-N, UYPYRKYUKCHHIB-UHFFFAOYSA-N +http://classic.wikipathways.org/instance/WP4290_r136156 (example) has: IMP CHEBI:17202 with InChIKeys: GRSZFWQUAKGDAV-UHFFFAOYSA-N, GRSZFWQUAKGDAV-KQYNXXCUSA-N +http://classic.wikipathways.org/instance/WP4290_r136156 (example) has: glutamine CHEBI:28300 with InChIKeys: ZDXPYRJPNDTMRX-UHFFFAOYSA-N, RSOHUXCZIQMEMQ-JLHYYAGUSA-N ``` -More details at [https://www.wikipathways.org/WikiPathwaysCurator/WikidataTests/chebiWithoutMapping](https://www.wikipathways.org/WikiPathwaysCurator/WikidataTests/chebiWithoutMapping) - diff --git a/reports/WP4705.md b/reports/WP4705.md index 74c7fd6..d1fac04 100644 --- a/reports/WP4705.md +++ b/reports/WP4705.md @@ -73,42 +73,42 @@ Interactions without literature references: 36 ``` -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idc12ee2d5 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idaffa35d6 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id71c25215 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idbbf5b0dd -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idd096d760 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id7e04d7bc -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id658e2ed4 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idab62fb7b -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id61811f11 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idddca2baf -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/b7745 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id31c220f4 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idca056563 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/ideda7de2a -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/df6a1 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/d980b -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id3b4d59a9 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/fdacc -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id4a94bff -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idd45ff29e -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/ida930645 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idc52f8c77 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id28463d3b -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/ComplexBinding/d60b6 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/ba725 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/ed0de -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id3d85da4c -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idfd223107 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/a4121 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/ida8bbcb3c -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/id997e3eb9 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/f413f -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idbd3bcc46 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idc9dfed8a -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/ide910b442 -http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathways.org/Pathway/WP4705_r128779/WP/Interaction/idf290c8fa +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/ed0de +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/f413f +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id71c25215 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idf290c8fa +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id31c220f4 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idab62fb7b +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/ComplexBinding/d60b6 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idfd223107 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/ide910b442 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id61811f11 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idd45ff29e +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/ida930645 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id4a94bff +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/b7745 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/fdacc +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idc52f8c77 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idca056563 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id658e2ed4 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idc12ee2d5 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id28463d3b +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idbbf5b0dd +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/ida8bbcb3c +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id7e04d7bc +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id3d85da4c +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/a4121 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/df6a1 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id997e3eb9 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/ideda7de2a +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idd096d760 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idc9dfed8a +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/id3b4d59a9 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/d980b +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idddca2baf +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/ba725 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idbd3bcc46 +http://classic.wikipathways.org/instance/WP4705_r136158 -> http://rdf.wikipathways.org/Pathway/WP4705_r136158/WP/Interaction/idaffa35d6 ``` @@ -117,8 +117,8 @@ http://classic.wikipathways.org/instance/WP4705_r128779 -> http://rdf.wikipathwa Interactions found that involve Labels: 2 ``` -http://classic.wikipathways.org/instance/WP4705_r128779 "UV light" with graphId cd31a -http://classic.wikipathways.org/instance/WP4705_r128779 "RNA +http://classic.wikipathways.org/instance/WP4705_r136158 "UV light" with graphId cd31a +http://classic.wikipathways.org/instance/WP4705_r136158 "RNA degradation" with graphId ede18 ``` @@ -128,8 +128,8 @@ degradation" with graphId ede18 ChEBI identifiers without Wikidata mappings: 2 ``` -https://identifiers.org/chebi/CHEBI:74411 (Adenosine) does not have a Wikidata mapping in http://classic.wikipathways.org/instance/WP4705_r128779 ; -https://identifiers.org/chebi/CHEBI:82852 (Inosine) does not have a Wikidata mapping in http://classic.wikipathways.org/instance/WP4705_r128779 ; +https://identifiers.org/chebi/CHEBI:74411 (Adenosine) does not have a Wikidata mapping in http://classic.wikipathways.org/instance/WP4705_r136158 ; +https://identifiers.org/chebi/CHEBI:82852 (Inosine) does not have a Wikidata mapping in http://classic.wikipathways.org/instance/WP4705_r136158 ; ``` More details at [https://www.wikipathways.org/WikiPathwaysCurator/WikidataTests/chebiWithoutMapping](https://www.wikipathways.org/WikiPathwaysCurator/WikidataTests/chebiWithoutMapping) diff --git a/reports/WP5504.json b/reports/WP5504.json index 8e8ad3d..1624939 100644 --- a/reports/WP5504.json +++ b/reports/WP5504.json @@ -1,6 +1,6 @@ { "schemaVersion": 1, "label": "curation", - "message": "5 issues", + "message": "3 issues", "color": "orange" } diff --git a/reports/WP5504.md b/reports/WP5504.md index 3838088..6dcdbbf 100644 --- a/reports/WP5504.md +++ b/reports/WP5504.md @@ -33,8 +33,7 @@ * nonNumericIDs: .. all OK! * interactionsWithLabels: .x we found 1 problem(s): * [Interactions found that involve Labels: 2](#630d2679) - * possibleTranslocations: .x we found 1 problem(s): - * [Interactions between identical nodes: 2](#1c118207) + * possibleTranslocations: .. all OK! * noProteinProteinConversions: .. all OK! * incorrectKEGGIdentifiers: .. all OK! * KEGGMetaboliteTests: all 2 tests OK! @@ -42,15 +41,7 @@ * MetaboliteStructureTests: all 1 tests OK! * MetabolitesTests: all 15 tests OK! * OudatedDataSourcesTests: all 7 tests OK! -* PathwayTests - * deletedPathways: .. all OK! - * linksToDeletedPathways: .. all OK! - * linksToDeletedPathways_All: .. all OK! - * speciesMismatch: .. all OK! - * testRoundedRectangle: .x we found 1 problem(s): - * [Pathways DataNodes with WikiPathways ID that can be converted to have a RoundedRectangle ShapeType so that they become clickable: 1](#16e17db) - * youMustCite: .. all OK! - * oldLicenses: .. all OK! +* PathwayTests: all 7 tests OK! * ProteinsTests: all 2 tests OK! * PubChemMetabolitesTests: all 3 tests OK! * ReferencesTests: all 6 tests OK! @@ -63,7 +54,7 @@ * Number of test classes: 23 * Number of tests: 121 * Number of assertions: 244 -* Number of fails: 5 +* Number of fails: 3 ## Fails @@ -73,22 +64,22 @@ Interactions without literature references: 16 ``` -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/e5bc2 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/eca30 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/b7377 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/dca9b -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/a10a8 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/d6dae -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/ComplexBinding/c3635 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/af333 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/ffbfa -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/ce009 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/a47fe -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/c22d1 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/bc7ea -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/dbf59 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/dc157 -http://classic.wikipathways.org/instance/WP5504_r136141 -> http://rdf.wikipathways.org/Pathway/WP5504_r136141/ComplexBinding/da100 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/bc7ea +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/a10a8 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/dc157 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/c22d1 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/a47fe +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/ComplexBinding/da100 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/dca9b +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/d6dae +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/ce009 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/af333 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/dbf59 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/eca30 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/ComplexBinding/c3635 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/b7377 +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/ffbfa +http://classic.wikipathways.org/instance/WP5504_r136157 -> http://rdf.wikipathways.org/Pathway/WP5504_r136157/WP/Interaction/e5bc2 ``` @@ -106,33 +97,10 @@ https://identifiers.org/wikipathways/WP5504 has an metabolite not linked to an i Interactions found that involve Labels: 2 ``` -http://classic.wikipathways.org/instance/WP5504_r136141 "Mitochondrial +http://classic.wikipathways.org/instance/WP5504_r136157 "Mitochondrial Membrane Potential" with graphId fbd15 -http://classic.wikipathways.org/instance/WP5504_r136141 "Mitophagy +http://classic.wikipathways.org/instance/WP5504_r136157 "Mitophagy regulation" with graphId dae41 ``` - - -## Possible MIM translocation - -Interactions between identical nodes: 2 -``` -http://classic.wikipathways.org/instance/WP5504_r136141 http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/e0d33 "Proline" (https://identifiers.org/chebi/CHEBI:26271) and -Proline" (https://identifiers.org/chebi/CHEBI:26271) -http://classic.wikipathways.org/instance/WP5504_r136141 http://rdf.wikipathways.org/Pathway/WP5504_r136141/WP/Interaction/dbb70 "pyrroline-5- carboxylate" (https://identifiers.org/chebi/CHEBI:15893) and -pyrroline-5- carboxylate" (https://identifiers.org/chebi/CHEBI:15893) -``` - -More details at [https://www.wikipathways.org/WikiPathwaysCurator/InteractionTests/possibleTranslocations](https://www.wikipathways.org/WikiPathwaysCurator/InteractionTests/possibleTranslocations) - - - -## PathwayTests.testRoundedRectangle - -Pathways DataNodes with WikiPathways ID that can be converted to have a RoundedRectangle ShapeType so that they become clickable: 1 -``` -http://classic.wikipathways.org/instance/WP5504_r136141 -> a14a8, WP2717 - ``` - diff --git a/reports/WP5506.json b/reports/WP5506.json index 4740086..adb9b9b 100644 --- a/reports/WP5506.json +++ b/reports/WP5506.json @@ -1,6 +1,6 @@ { "schemaVersion": 1, "label": "curation", - "message": "7 issues", + "message": "6 issues", "color": "orange" } diff --git a/reports/WP5506.md b/reports/WP5506.md index fb5b222..3a1828f 100644 --- a/reports/WP5506.md +++ b/reports/WP5506.md @@ -10,7 +10,7 @@ * ChemSpiderTests: all 2 tests OK! * CovidDiseaseMapsTests * interactionsWithoutReferences: .x we found 1 problem(s): - * [Interactions without literature references: 11](#9701cce2) + * [Interactions without literature references: 12](#9701cce3) * missingHGNC: .. all OK! * DataNodesTests: all 5 tests OK! * EnsemblTests: all 5 tests OK! @@ -18,14 +18,7 @@ * GeneralTests: all 13 tests OK! * HMDBMetabolitesTests: all 2 tests OK! * HMDBSecMetabolitesTests: all 3 tests OK! -* IEMPathwayTests - * allMetabolitesInteract: .x we found 1 problem(s): - * [Found metabolites without interaction: 1](#2bc2e7ec) - * metabolicConversions: .. all OK! - * catalystsWithCommonDataSource: .. all OK! - * metabolicConversionIdentifiersCommon: .. all OK! - * diseasesHaveIdentifiers: .. all OK! - * omimIdentifiers: .. all OK! +* IEMPathwayTests: all 6 tests OK! * InteractionTests * noMetaboliteToNonMetaboliteConversions: .. all OK! * noNonMetaboliteToMetaboliteConversions: .. all OK! @@ -94,36 +87,28 @@ * Number of test classes: 23 * Number of tests: 121 * Number of assertions: 244 -* Number of fails: 7 +* Number of fails: 6 ## Fails - + ## CovidDiseaseMapsTests.interactionsWithoutReferences -Interactions without literature references: 11 +Interactions without literature references: 12 ``` -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/afd58 -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/ebf19 -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/idf02016cf -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/idfe78d24b -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/idcb736366 -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/idc3f9ca71 -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/fca0e -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/idfd836518 -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/ide4aa25cc -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/e4a6c -http://classic.wikipathways.org/instance/WP5506_r136143 -> http://rdf.wikipathways.org/Pathway/WP5506_r136143/WP/Interaction/idbf91fee3 -``` - - - -## IEMPathwayTests.allMetabolitesInteract - -Found metabolites without interaction: 1 -``` -https://identifiers.org/wikipathways/WP5506 has an metabolite not linked to an interaction: NMN(+) +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/idfe78d24b +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/idfd836518 +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/idbf91fee3 +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/idcb736366 +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/fca0e +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/idb83ec8f6 +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/ide4aa25cc +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/e4a6c +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/ebf19 +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/idc3f9ca71 +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/idf02016cf +http://classic.wikipathways.org/instance/WP5506_r136155 -> http://rdf.wikipathways.org/Pathway/WP5506_r136155/WP/Interaction/afd58 ``` @@ -133,8 +118,8 @@ https://identifiers.org/wikipathways/WP5506 has an metabolite not linked to an i Incorrect Rhea IDs: 2 ``` Found Rhea IDs that are not numbers (they should not include a 'Rhea:' prefix): -http://classic.wikipathways.org/instance/WP5506_r136143 RHEA:38611 -http://classic.wikipathways.org/instance/WP5506_r136143 RHEA:38615 +http://classic.wikipathways.org/instance/WP5506_r136155 RHEA:38611 +http://classic.wikipathways.org/instance/WP5506_r136155 RHEA:38615 ``` @@ -143,13 +128,13 @@ http://classic.wikipathways.org/instance/WP5506_r136143 RHEA:38615 Interactions found that involve Labels: 3 ``` -http://classic.wikipathways.org/instance/WP5506_r136143 "NAD(P)HX -epimerase -deficiency" with graphId cf0ea -http://classic.wikipathways.org/instance/WP5506_r136143 "NAD +http://classic.wikipathways.org/instance/WP5506_r136155 "NAD synthetase 1 deficiency" with graphId d7a82 -http://classic.wikipathways.org/instance/WP5506_r136143 "NAD(P)HX +http://classic.wikipathways.org/instance/WP5506_r136155 "NAD(P)HX +epimerase +deficiency" with graphId cf0ea +http://classic.wikipathways.org/instance/WP5506_r136155 "NAD(P)HX dehydratase deficiency" with graphId f7ea7 ``` @@ -160,7 +145,7 @@ deficiency" with graphId f7ea7 Non-zero count of metabolites with more than one InChIKey: 1 ``` -http://classic.wikipathways.org/instance/WP5506_r136143 (example) has: ADP-D-ribose CHEBI:16960 with InChIKeys: SRNWOUGRCWSEMX-UHFFFAOYSA-N, SRNWOUGRCWSEMX-TYASJMOZSA-N +http://classic.wikipathways.org/instance/WP5506_r136155 (example) has: ADP-D-ribose CHEBI:16960 with InChIKeys: SRNWOUGRCWSEMX-UHFFFAOYSA-N, SRNWOUGRCWSEMX-TYASJMOZSA-N ``` @@ -169,7 +154,7 @@ http://classic.wikipathways.org/instance/WP5506_r136143 (example) has: ADP-D-rib Found 1 pathways with zero (PubMed) references -* [http://classic.wikipathways.org/instance/WP5506_r136143](http://classic.wikipathways.org/instance/WP5506_r136143) 'Disorders of NAD metabolism' in Homo sapiens has zero references; +* [http://classic.wikipathways.org/instance/WP5506_r136155](http://classic.wikipathways.org/instance/WP5506_r136155) 'Disorders of NAD metabolism' in Homo sapiens has zero references; More details at [https://www.wikipathways.org/WikiPathwaysCurator/ReferencesTests/atLeastOneReference](https://www.wikipathways.org/WikiPathwaysCurator/ReferencesTests/atLeastOneReference) diff --git a/wp/Human/WP5504.ttl b/wp/Human/WP5504.ttl index 21717f6..4c74170 100644 --- a/wp/Human/WP5504.ttl +++ b/wp/Human/WP5504.ttl @@ -23,20 +23,20 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000156709" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . rdf:type wp:PublicationReference ; dc:source "PubMed" ; dcterms:identifier "39075050" ; - dcterms:isPartOf , , , , , , , , , , , , , , , , ; + dcterms:isPartOf , , , , , , , , , , , , , , , , ; foaf:page . @@ -45,13 +45,13 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000158828" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot ; wp:bdbWikidata ; - wp:isAbout , , ; + wp:isAbout , , ; foaf:page . @@ -60,71 +60,71 @@ dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q9BUK6" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:Pathway , skos:Collection ; - dc:identifier ; - dc:source "WikiPathways" ; - dc:title "Disorders of Mitochondrial Homeostatis, Dynamics, Protein Import, and Quality Control"@en ; - dcterms:description "This pathway lists several genes involved in mechanisms involved in disorders of mitochondrial homeostatis, dynamics, protein import, and quality control. This pathway was inspired by Figure 46.1 of Edition 5, Chapter 46 of the book of Blau (ISBN 9783030677268). Genes linked to a disease in this book chapter are depicted in red." ; - dcterms:identifier "WP5504" ; - cito:cites , , , ; - wp:isAbout ; - wp:ontologyTag obo:PW_0001669 , obo:PW_0000013 ; - wp:organism obo:NCBITaxon_9606 ; - wp:organismName "Homo sapiens" ; - wp:pathwayOntologyTag obo:PW_0000013 , obo:PW_0001669 ; - foaf:img , ; - foaf:page . - rdf:type wp:DataNode , wp:GeneProduct ; rdfs:label "TXN2" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000100348" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + rdf:type wp:DataNode , wp:GeneProduct ; rdfs:label "SFXN4" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000183605" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type wp:Conversion , wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + rdf:type wp:Protein , wp:DataNode ; rdfs:label "TMEM126A" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q9H061" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -133,55 +133,69 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000144381" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type wp:DirectedInteraction , wp:Catalysis , wp:Interaction ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + rdf:type wp:DataNode , wp:Protein ; rdfs:label "MARCHF5" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q9NX47" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot ; - wp:isAbout ; + wp:isAbout ; foaf:page . + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + rdf:type wp:GeneProduct , wp:DataNode ; rdfs:label "HTRA2" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000115317" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type foaf:Image ; - dcterms:format "image/svg+xml" . - - - rdf:type wp:Catalysis , wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . rdf:type wp:DataNode , wp:Pathway ; @@ -189,8 +203,8 @@ dc:identifier ; dc:source "WikiPathways" ; dcterms:identifier "WP2717" ; - dcterms:isPartOf , ; - wp:isAbout ; + dcterms:isPartOf , ; + wp:isAbout ; foaf:page . @@ -200,7 +214,7 @@ dc:identifier ; dc:source "ChEBI" ; dcterms:identifier "CHEBI:26271" ; - dcterms:isPartOf , , , ; + dcterms:isPartOf , , , ; dcterms:references ; wp:bdbChEBI ; wp:bdbChemspider ; @@ -209,7 +223,7 @@ wp:bdbKeggCompound ; wp:bdbPubChem , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -218,32 +232,23 @@ dc:identifier ; dc:source "WikiPathways" ; dcterms:identifier "WP5037" ; - dcterms:isPartOf , , , ; - wp:isAbout ; + dcterms:isPartOf , , , ; + wp:isAbout ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction , wp:Stimulation ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - rdf:type wp:GeneProduct , wp:DataNode ; rdfs:label "HSPA9" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000113013" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -252,46 +257,37 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000113845" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants ; - wp:source ; - wp:target . - rdf:type wp:DataNode , wp:GeneProduct ; rdfs:label "PRKN" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000185345" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - + rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . rdf:type wp:GeneProduct , wp:DataNode ; @@ -299,13 +295,13 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000196236" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -314,22 +310,23 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000125656" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:Stimulation , wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . + + rdf:type wp:DirectedInteraction , wp:Interaction , wp:Conversion ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . rdf:type wp:DataNode , wp:GeneProduct ; @@ -337,43 +334,36 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000087470" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants ; - wp:source ; - wp:target . - rdf:type wp:GeneProduct , wp:DataNode ; rdfs:label "AGK" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000006530" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:ComplexBinding , wp:Binding , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , , , . + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . rdf:type wp:DataNode , wp:Protein ; @@ -381,12 +371,12 @@ dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q9NZJ6" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -395,12 +385,12 @@ dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q8IWA4" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , ; - wp:isAbout ; + wp:isAbout ; foaf:page . @@ -409,70 +399,119 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000164209" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type wp:Stimulation , wp:Interaction , wp:DirectedInteraction ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + + + rdf:type wp:Binding , wp:Interaction , wp:DirectedInteraction ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + + + rdf:type wp:Translocation , wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants ; + wp:source ; + wp:target . + rdf:type wp:DataNode , wp:Protein ; rdfs:label "VCP" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "P55072" ; - dcterms:isPartOf , , , ; + dcterms:isPartOf , , , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , , , , , , , , , , ; - wp:isAbout , , , , ; + wp:isAbout , , , , ; foaf:page . - - rdf:type wp:ComplexBinding , wp:Binding , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , , , . - rdf:type wp:DataNode , wp:Pathway ; rdfs:label "Urea Cycle" ; dc:identifier ; dc:source "WikiPathways" ; dcterms:identifier "WP4571" ; - dcterms:isPartOf , , ; - wp:isAbout ; + dcterms:isPartOf , , ; + wp:isAbout ; foaf:page . + + rdf:type wp:Stimulation , wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + rdf:type wp:DataNode , wp:GeneProduct ; rdfs:label "LONP1" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "P36776" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . + + rdf:type wp:Translocation , wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants ; + wp:source ; + wp:target . - - rdf:type foaf:Image ; - dcterms:format "image/png" . + + rdf:type wp:ComplexBinding , wp:Binding , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , , , . + + + rdf:type wp:Stimulation , wp:Interaction , wp:DirectedInteraction ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . rdf:type wp:DataNode , wp:Protein ; @@ -480,36 +519,28 @@ dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q8WWV3" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; dcterms:references ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - rdf:type wp:GeneProduct , wp:DataNode ; rdfs:label "MIPEP" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000027001" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -518,12 +549,12 @@ dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q96TA2" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , ; - wp:isAbout ; + wp:isAbout ; foaf:page . @@ -532,12 +563,12 @@ dc:identifier ; dc:source "HGNC" ; dcterms:identifier "GFER" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl , , , ; wp:bdbEntrezGene , , ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -547,7 +578,7 @@ dc:identifier ; dc:source "ChEBI" ; dcterms:identifier "CHEBI:30915" ; - dcterms:isPartOf , , ; + dcterms:isPartOf , , ; dcterms:references ; wp:bdbChEBI ; wp:bdbChemspider ; @@ -556,21 +587,21 @@ wp:bdbKeggCompound ; wp:bdbPubChem , ; wp:bdbWikidata ; - wp:isAbout ; + wp:isAbout ; foaf:page . rdf:type wp:PublicationReference ; dc:source "PubMed" ; dcterms:identifier "38199007" ; - dcterms:isPartOf ; + dcterms:isPartOf ; foaf:page . rdf:type wp:PublicationReference ; dc:source "PubMed" ; dcterms:identifier "38891822" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; foaf:page . @@ -579,22 +610,20 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000108561" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . + + rdf:type wp:ComplexBinding , wp:Binding , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , , , . rdf:type wp:GeneProduct , wp:DataNode ; @@ -602,13 +631,13 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000107959" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -617,13 +646,13 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000197912" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene , ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -632,26 +661,34 @@ dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q04323" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + rdf:type wp:DataNode , wp:Protein ; rdfs:label "MCL1" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q07820" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene , ; wp:bdbHgncSymbol ; wp:bdbUniprot , , ; - wp:isAbout ; + wp:isAbout ; foaf:page . @@ -660,13 +697,13 @@ dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000170581" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -676,7 +713,7 @@ dc:identifier ; dc:source "ChEBI" ; dcterms:identifier "CHEBI:16474" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; dcterms:references ; wp:bdbChEBI ; wp:bdbChemspider ; @@ -685,7 +722,7 @@ wp:bdbKeggCompound ; wp:bdbPubChem ; wp:bdbWikidata ; - wp:isAbout ; + wp:isAbout ; foaf:page . @@ -694,12 +731,12 @@ dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "P08567" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . @@ -710,45 +747,28 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000168958" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - - - rdf:type wp:Stimulation , wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - rdf:type wp:DataNode , wp:GeneProduct ; rdfs:label "TIMM50" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000105197" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -757,15 +777,23 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000105819" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type wp:Catalysis , wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + rdf:type wp:Metabolite , wp:DataNode ; rdfs:label "glutamate" ; @@ -773,29 +801,53 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "ChEBI" ; dcterms:identifier "CHEBI:14321" ; - dcterms:isPartOf , , , ; + dcterms:isPartOf , , , ; dcterms:references ; wp:bdbChEBI ; wp:bdbChemspider ; wp:bdbInChIKey ; wp:bdbPubChem , , ; wp:bdbWikidata ; - wp:isAbout ; + wp:isAbout ; foaf:page . + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + + + rdf:type wp:Pathway , skos:Collection ; + dc:identifier ; + dc:source "WikiPathways" ; + dc:title "Disorders of Mitochondrial Homeostatis, Dynamics, Protein Import, and Quality Control"@en ; + dcterms:description "This pathway lists several genes involved in mechanisms involved in disorders of mitochondrial homeostatis, dynamics, protein import, and quality control. This pathway was inspired by Figure 46.1 of Edition 5, Chapter 46 of the book of Blau (ISBN 9783030677268). Genes linked to a disease in this book chapter are depicted in red." ; + dcterms:identifier "WP5504" ; + cito:cites , , , ; + wp:isAbout ; + wp:ontologyTag obo:PW_0000013 , obo:PW_0001669 ; + wp:organism obo:NCBITaxon_9606 ; + wp:organismName "Homo sapiens" ; + wp:pathwayOntologyTag obo:PW_0000013 , obo:PW_0001669 ; + foaf:img , ; + foaf:page . + rdf:type wp:GeneProduct , wp:DataNode ; rdfs:label "MFN2" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000116688" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , , ; + wp:isAbout , , ; foaf:page . @@ -804,13 +856,13 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000165688" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -819,26 +871,48 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "HGNC" ; dcterms:identifier "GDAP1L1" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl , , ; wp:bdbEntrezGene , , ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + + + rdf:type wp:Stimulation , wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + + + rdf:type wp:Complex , wp:DataNode ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , , . + rdf:type wp:DataNode , wp:Protein ; rdfs:label "SACS?" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q9NZJ4" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -847,28 +921,32 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000162129" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type foaf:Image ; + dcterms:format "image/svg+xml" . + rdf:type wp:DataNode , wp:Protein ; rdfs:label "PYCR1" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "P32322" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; dcterms:references ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , ; - wp:isAbout ; + wp:isAbout ; foaf:page . @@ -877,13 +955,13 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q96C36" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; dcterms:references ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , ; - wp:isAbout ; + wp:isAbout ; foaf:page . @@ -892,12 +970,12 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q93008" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -906,15 +984,21 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000107745" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type wp:Complex , wp:DataNode ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , , . + rdf:type wp:DataNode , wp:Metabolite ; rdfs:label "ornithine" ; @@ -922,7 +1006,7 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "ChEBI" ; dcterms:identifier "CHEBI:18257" ; - dcterms:isPartOf , , ; + dcterms:isPartOf , , ; dcterms:references ; wp:bdbChEBI ; wp:bdbChemspider ; @@ -931,29 +1015,21 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . wp:bdbLipidMaps ; wp:bdbPubChem , ; wp:bdbWikidata ; - wp:isAbout ; + wp:isAbout ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - rdf:type wp:DataNode , wp:Protein ; rdfs:label "COQ5" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q5HYK3" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , ; - wp:isAbout ; + wp:isAbout ; foaf:page . @@ -963,7 +1039,7 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "ChEBI" ; dcterms:identifier "CHEBI:15893" ; - dcterms:isPartOf , , , , , , ; + dcterms:isPartOf , , , , , , ; dcterms:references ; wp:bdbChEBI ; wp:bdbChemspider ; @@ -971,25 +1047,9 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . wp:bdbKeggCompound ; wp:bdbPubChem ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - rdf:type wp:DataNode , wp:Metabolite ; rdfs:label "arginine" ; @@ -997,7 +1057,7 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "ChEBI" ; dcterms:identifier "CHEBI:29016" ; - dcterms:isPartOf , , ; + dcterms:isPartOf , , ; dcterms:references ; wp:bdbChEBI ; wp:bdbChemspider ; @@ -1006,39 +1066,22 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . wp:bdbKeggCompound ; wp:bdbPubChem , , ; wp:bdbWikidata ; - wp:isAbout ; + wp:isAbout ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction , wp:Catalysis ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - - - rdf:type wp:Conversion , wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - rdf:type wp:GeneProduct , wp:DataNode ; rdfs:label "AFG3L2" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000141385" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -1047,13 +1090,13 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000198836" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -1062,12 +1105,12 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q9BZV1" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , ; - wp:isAbout ; + wp:isAbout ; foaf:page . @@ -1076,13 +1119,13 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000184470" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -1091,13 +1134,13 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000126953" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -1106,13 +1149,13 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000182606" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -1121,13 +1164,13 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000136758" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -1136,34 +1179,26 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q15070" ; - dcterms:isPartOf , , ; + dcterms:isPartOf , , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , ; - wp:isAbout ; + wp:isAbout ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - rdf:type wp:DataNode , wp:Protein ; rdfs:label "UFD1" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q92890" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -1172,23 +1207,30 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000197785" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:Conversion , wp:Interaction , wp:DirectedInteraction ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . + + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . rdf:type wp:DataNode , wp:GeneProduct ; @@ -1196,48 +1238,44 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000138777" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . + + rdf:type foaf:Image ; + dcterms:format "image/png" . + rdf:type wp:Protein , wp:DataNode ; rdfs:label "OPA3?" , "OPA3" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q9H6K4" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - pav:hasVersion . + pav:hasVersion . - - rdf:type wp:Interaction , wp:Catalysis , wp:DirectedInteraction ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . + + rdf:type wp:DirectedInteraction , wp:Interaction ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . rdf:type wp:Protein , wp:DataNode ; @@ -1245,12 +1283,12 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q8TAT6" ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -1259,38 +1297,23 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "WikiPathways" ; dcterms:identifier "WP78" ; - dcterms:isPartOf , , ; - wp:isAbout ; + dcterms:isPartOf , , ; + wp:isAbout ; foaf:page . - - rdf:type wp:Binding , wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - - - rdf:type wp:Complex , wp:DataNode ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , , . - rdf:type wp:DataNode , wp:GeneProduct ; rdfs:label "DNAJC19" ; dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000205981" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . @@ -1307,7 +1330,7 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "ChEBI" ; dcterms:identifier "CHEBI:15956" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbChEBI ; wp:bdbChemspider ; wp:bdbHmdb ; @@ -1315,7 +1338,7 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . wp:bdbKeggCompound ; wp:bdbPubChem ; wp:bdbWikidata ; - wp:isAbout ; + wp:isAbout ; foaf:page . @@ -1324,30 +1347,22 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000217930" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , , , ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - - - rdf:type wp:DirectedInteraction , wp:Interaction , wp:Stimulation ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . + + rdf:type wp:Catalysis , wp:Interaction , wp:DirectedInteraction ; + dcterms:isPartOf ; + dcterms:references ; + wp:isAbout ; + wp:participants , ; + wp:source ; + wp:target . rdf:type wp:DataNode , wp:GeneProduct ; @@ -1355,41 +1370,26 @@ obo:NCBITaxon_9606 obo:NCIT_C179773 "9606" . dc:identifier ; dc:source "Ensembl" ; dcterms:identifier "ENSG00000174917" ; - dcterms:isPartOf ; + dcterms:isPartOf ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , ; wp:bdbWikidata ; - wp:isAbout , ; + wp:isAbout , ; foaf:page . - - rdf:type wp:DirectedInteraction , wp:Interaction ; - dcterms:isPartOf ; - dcterms:references ; - wp:isAbout ; - wp:participants , ; - wp:source ; - wp:target . - - - rdf:type wp:Complex , wp:DataNode ; - dcterms:isPartOf ; - wp:isAbout ; - wp:participants , , . - rdf:type wp:Protein , wp:DataNode ; rdfs:label "PYCR3" ; dc:identifier ; dc:source "Uniprot-TrEMBL" ; dcterms:identifier "Q53H96" ; - dcterms:isPartOf , , , ; + dcterms:isPartOf , , , ; dcterms:references ; wp:bdbEnsembl ; wp:bdbEntrezGene ; wp:bdbHgncSymbol ; wp:bdbUniprot , , , , ; - wp:isAbout ; + wp:isAbout ; foaf:page . diff --git a/wp/gpml/Human/WP5504.ttl b/wp/gpml/Human/WP5504.ttl index 3aec8e6..a2378f4 100644 --- a/wp/gpml/Human/WP5504.ttl +++ b/wp/gpml/Human/WP5504.ttl @@ -17,258 +17,247 @@ @prefix wprdf: . @prefix xsd: . + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "287.0"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "cd943" ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "CLPB" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000162129" ; + gpml:zorder "33121"^^xsd:long . + rdf:type gpml:PublicationXref ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; gpml:database "Pubmed" ; gpml:id "37884807" . - + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "MITOL/March5" . + + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "d5e39" ; - gpml:hasPoint , ; + gpml:graphId "c90bb" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33391"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "QIL1 deficiency" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ac59e" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "710.42194092827"^^xsd:double ; - gpml:y "791.2148382559776"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "AKA P5C" . + gpml:zorder "33335"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1485.9308630682897"^^xsd:double ; - gpml:centerY "405.5791759758225"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "1321.3817486860962"^^xsd:double ; + gpml:centerY "355.9565344663881"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "d6ffb" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/615578" ; + gpml:fontWeight "Bold" ; + gpml:graphId "be7eb" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "COXPD18" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "PMPCB" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33354"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Hereditary motor and sensory neuropathy type 6B" . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "e5e3e" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33287"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ae348" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "471.4014882383834"^^xsd:double . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "a2cd7" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33261"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b4616" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33273"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000105819" ; + gpml:zorder "33285"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1819.6252877585632"^^xsd:double ; - gpml:centerY "945.2517985611506"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "1253.4056603773577"^^xsd:double ; + gpml:centerY "51.978832700053744"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "14.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "efc96" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/617302" ; + gpml:graphId "f4367" ; + gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "OPA11" ; + gpml:shapeType "None" ; + gpml:textlabel "Mitochondrial biogenesis" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33341"^^xsd:long . + gpml:width "223.0"^^xsd:double ; + gpml:zorder "33348"^^xsd:long . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Costeff Syndrome" . + dcterms:isPartOf ; + gpml:commentText "DEE68" . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Detachment from mitochondrial outer membrane" . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; gpml:biopaxRef "de4" ; - gpml:centerX "852.6300984528835"^^xsd:double ; - gpml:centerY "821.842475386779"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "df8b4" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "b8974" ; + gpml:hasPoint , ; gpml:hasPublicationXref ; - gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "glutamate" ; - gpml:type "Metabolite" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:14321" ; - gpml:zorder "33211"^^xsd:long . + gpml:zorder "33083"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c7359" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "efa26" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1431.8799177780106"^^xsd:double ; - gpml:y "232.61151079136692"^^xsd:double . + gpml:x "564.142053445851"^^xsd:double ; + gpml:y "773.7130801687763"^^xsd:double . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "579.2672441270402"^^xsd:double ; - gpml:centerY "198.89952101964715"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "1004.434782608696"^^xsd:double ; + gpml:centerY "227.4023354394256"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "a0ac9" ; - gpml:height "8.598352231477302"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "c9c4b" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "4.324311636533555"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "AGK" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "32.82927389901314"^^xsd:double ; - gpml:zorder "33163"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000006530" ; + gpml:zorder "33277"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c3fb1" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1764.5671482236799"^^xsd:double ; - gpml:y "791.6893561969504"^^xsd:double . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Harel-Yoon syndrome" . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1479.5157687286671"^^xsd:double ; - gpml:centerY "1043.2050103060094"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "389.0091791517197"^^xsd:double ; + gpml:centerY "596.7899159663851"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "e5e91" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/615673" ; + gpml:fontWeight "Bold" ; + gpml:graphId "cf016" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MPXPS" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "TXN2" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33378"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000100348" ; + gpml:zorder "33188"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "739.1041486603274"^^xsd:double ; + gpml:centerY "353.1002592912707"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "db861" ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "PINK1" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000158828" ; + gpml:zorder "33181"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "df8b4" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "852.6300984528835"^^xsd:double ; - gpml:y "834.342475386779"^^xsd:double . + dcterms:isPartOf , ; + gpml:graphRef "d1ee0" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1424.4576291937838"^^xsd:double ; + gpml:y "825.4023347359844"^^xsd:double . + + + rdf:type gpml:Group ; + dcterms:isPartOf ; + gpml:graphId "e425a" ; + gpml:groupId "fb48e" ; + gpml:style "Group" . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1484.610108351309"^^xsd:double ; - gpml:centerY "666.4039975566716"^^xsd:double ; + gpml:centerX "1820.7563887861609"^^xsd:double ; + gpml:centerY "169.42195660115897"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -277,81 +266,56 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "f840e" ; - gpml:hasComment , ; - gpml:height "48.65705171711603"^^xsd:double ; - gpml:href "https://www.iembase.com/disorder/1035" ; + gpml:graphId "b0609" ; + gpml:hasComment ; + gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/607831" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "Trafficking kinesin-\nbinding protein 1\ndeficiency" ; + gpml:textlabel "CMT2K" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33371"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "autosomal recessive spastic ataxia type 5" . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33226"^^xsd:long . - + rdf:type gpml:Comment ; - dcterms:isPartOf , , ; - gpml:commentText "Active in Cytosol" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a6eee" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "737.610630942092"^^xsd:double ; - gpml:y "187.84356093344852"^^xsd:double . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "d2fb1" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33245"^^xsd:long . + dcterms:isPartOf , ; + gpml:commentText "Listed as XNPEP3 in the chapter." . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "336.8343242892996"^^xsd:double ; - gpml:centerY "1082.8255274754144"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "337.0"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "a2ca6" ; - gpml:height "25.000000000000075"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "f49a2" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "UBXD1/UBXN6" ; - gpml:type "Protein" ; + gpml:textlabel "DNAJC19" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "96.95437415472591"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q9BZV1" ; - gpml:zorder "33409"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000205981" ; + gpml:zorder "33123"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "1820.7563887861609"^^xsd:double ; - gpml:centerY "280.5751060406617"^^xsd:double ; + gpml:centerY "454.5337471041773"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -360,60 +324,51 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "e730f" ; - gpml:hasComment ; + gpml:graphId "b817d" ; + gpml:hasComment , ; gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/616636" ; + gpml:href "https://omim.org/entry/165500" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "IMD44" ; + gpml:textlabel "OPA1" ; gpml:valign "Middle" ; gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33231"^^xsd:long . + gpml:zorder "33239"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.4166546650385"^^xsd:double ; - gpml:centerY "747.8124895070986"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "204.0"^^xsd:double ; + gpml:centerY "362.0"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "c0a49" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/600116" ; + gpml:fontWeight "Bold" ; + gpml:graphId "e8e0b" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "PARK2" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "TIMM8A" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33323"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "IEMNosology code: IEM0614" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "3-methylglutaconic aciduria type 8" . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000126953" ; + gpml:zorder "33136"^^xsd:long . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "523.2672441270403"^^xsd:double ; - gpml:centerY "189.89952101964715"^^xsd:double ; + gpml:centerX "361.13954341560066"^^xsd:double ; + gpml:centerY "244.52051360790466"^^xsd:double ; gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; @@ -421,39 +376,32 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "d5e7a" ; - gpml:height "8.598352231477302"^^xsd:double ; + gpml:graphId "da172" ; + gpml:height "11.290407690665027"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "3.781398971837235"^^xsd:double ; + gpml:shape "4.4294904647988655"^^xsd:double ; gpml:shapeType "Mitochondria" ; gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "32.82927389901314"^^xsd:double ; - gpml:zorder "33159"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "also known as optic atrophy-10 (OPA10); NADPH oxidoreductase, enriched in the mitochondrial matrix of muscle tissues. DOI: https://doi.org/10.1038/s41589-023-01452-w" . + gpml:width "70.89191721537954"^^xsd:double ; + gpml:zorder "33154"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b9bf6" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33374"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b297a" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "588.1440787285369"^^xsd:double ; + gpml:y "700.9404690146097"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "337.0"^^xsd:double ; + gpml:centerX "1004.4347826086959"^^xsd:double ; + gpml:centerY "647.8755259942994"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -462,65 +410,120 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "e4955" ; + gpml:graphId "c2c2b" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "SPG7" ; + gpml:textlabel "HTRA2" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000197912" ; - gpml:zorder "33135"^^xsd:long . + gpml:xrefId "ENSG00000115317" ; + gpml:zorder "33319"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Cerebral, ocular, dental, auricular, and skeletal syndrome" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f82e1" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1764.5671482236799"^^xsd:double ; + gpml:y "902.2991134825588"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e1971" ; + gpml:relX "-0.5"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "278.81932773109236"^^xsd:double ; + gpml:y "700.9404690146097"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "c40ae" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33318"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "92.03713714969838"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "447.75064822817603"^^xsd:double ; + gpml:centerY "91.03543647363864"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "14.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b56b7" ; - gpml:hasComment , ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/614487" ; + gpml:graphId "c348b" ; + gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "SPAX5" ; + gpml:shapeType "None" ; + gpml:textlabel "Mitochondrial biogenesis" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33312"^^xsd:long . + gpml:width "223.0"^^xsd:double ; + gpml:zorder "33141"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a2ca6" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "d44d9" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "385.31151136666256"^^xsd:double ; - gpml:y "1082.8255274754144"^^xsd:double . + gpml:x "927.1800281293953"^^xsd:double ; + gpml:y "844.3459915611817"^^xsd:double . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Valosin-containing protein superactivity" . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "a9988" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "504.2570901816184"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c2204" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1765.698249251277"^^xsd:double ; + gpml:y "391.33417764017156"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ac59e" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "710.42194092827"^^xsd:double ; + gpml:y "791.2148382559776"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.8804197939114"^^xsd:double ; - gpml:centerY "792.0582155873584"^^xsd:double ; + gpml:centerX "739.1041486603274"^^xsd:double ; + gpml:centerY "403.10025929127073"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -529,7 +532,7 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "c2caf" ; + gpml:graphId "d6102" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; @@ -540,14 +543,41 @@ gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; gpml:xrefId "Q9NZJ4" ; - gpml:zorder "33308"^^xsd:long . + gpml:zorder "33183"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "843.9280625100845"^^xsd:double ; + gpml:centerY "606.7899159663857"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "a58e0" ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "MICU1" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000107745" ; + gpml:zorder "33192"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "660.5985135724384"^^xsd:double ; - gpml:centerY "972.8182978203168"^^xsd:double ; + gpml:centerX "533.5"^^xsd:double ; + gpml:centerY "145.0"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -556,45 +586,41 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "dae41" ; + gpml:graphId "ddcaa" ; gpml:height "25.0"^^xsd:double ; gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "None" ; - gpml:textlabel "Mitophagy\nregulation" ; + gpml:textlabel "Fragmented\nmitochondria" ; gpml:valign "Middle" ; - gpml:width "95.34053586862709"^^xsd:double ; - gpml:zorder "33396"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fcaf6" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1430.8727235334063"^^xsd:double ; - gpml:y "138.1874846657468"^^xsd:double . + gpml:width "141.0"^^xsd:double ; + gpml:zorder "33143"^^xsd:long . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "bfead" ; - gpml:hasPoint , ; + gpml:graphId "fe265" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33345"^^xsd:long . + gpml:zorder "33358"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Alternative name for Mitochondrial epileptic encephalopathy according to IEMBase" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:biopaxRef "de4" ; - gpml:centerX "519.142053445851"^^xsd:double ; - gpml:centerY "773.7130801687763"^^xsd:double ; - gpml:color "ff" ; + gpml:centerX "611.9690576652604"^^xsd:double ; + gpml:centerY "735.7383966244734"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; @@ -602,35 +628,77 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "efa26" ; + gpml:graphId "ec753" ; + gpml:hasComment ; gpml:hasPublicationXref ; - gpml:height "35.003516174402314"^^xsd:double ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "Proline" ; - gpml:type "Metabolite" ; + gpml:textlabel "PYCR3" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "90.00000000000001"^^xsd:double ; - gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:26271" ; - gpml:zorder "33113"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q53H96" ; + gpml:zorder "33110"^^xsd:long . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "129.06416417672543"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "c9bf0" ; + gpml:hasComment , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/212350" ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "SCA28" ; + gpml:valign "Middle" ; + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33313"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "cd98a" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "271.0"^^xsd:double ; - gpml:y "308.8842592592593"^^xsd:double . + dcterms:isPartOf , ; + gpml:graphRef "f4049" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1765.6982492512773"^^xsd:double ; + gpml:y "423.1748106196871"^^xsd:double . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "c66" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "b2d20" ; + gpml:hasAnchor ; + gpml:hasComment ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33418"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "312.0"^^xsd:double ; + gpml:centerX "204.0"^^xsd:double ; + gpml:centerY "212.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -639,201 +707,266 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "fa7fb" ; + gpml:graphId "f9d2f" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "CLPP" ; + gpml:textlabel "PAM16" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000125656" ; - gpml:zorder "33122"^^xsd:long . + gpml:xrefId "ENSG00000217930" ; + gpml:zorder "33130"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c0a49" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1765.358515130155"^^xsd:double ; + gpml:y "747.8124895070986"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "be9db" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1424.4576291937838"^^xsd:double ; + gpml:y "971.0026954177887"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "a0f85" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1764.5671482236799"^^xsd:double ; + gpml:y "1041.853206057556"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "cb0f5" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "404.4257992633706"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Axonal Charcot-Marie-Tooth type 2K" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "dd58f" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1713.357606871274"^^xsd:double ; + gpml:y "994.1173570009523"^^xsd:double . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "383.3794295592049"^^xsd:double ; - gpml:centerY "364.2713915298186"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "779.1534719305375"^^xsd:double ; + gpml:centerY "91.03543647363865"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "14.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "e450c" ; - gpml:height "25.00000000000001"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "ce221" ; + gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "MSTO1?" ; - gpml:type "Protein" ; + gpml:shapeType "None" ; + gpml:textlabel "Mitochondrial degradation" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q9BUK6" ; - gpml:zorder "33175"^^xsd:long . + gpml:width "241.40886409741182"^^xsd:double ; + gpml:zorder "33177"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ea313" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "f6126" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "685.5252814498098"^^xsd:double . + gpml:x "817.517985611511"^^xsd:double ; + gpml:y "308.56115107913695"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Axonal Charcot-Marie-Tooth disease type 2A2B" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ccfcb" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1424.4576291937838"^^xsd:double ; + gpml:y "930.814016172506"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "No OMIM ID for disease but for the gene (https://omim.org/entry/616658)" . - + + rdf:type gpml:Group ; + dcterms:isPartOf ; + gpml:graphId "c3635" ; + gpml:groupId "b7d9d" ; + gpml:style "Complex" . + + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "1664.8804197939112"^^xsd:double ; - gpml:centerY "902.2991134825588"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "496.0650935200687"^^xsd:double ; + gpml:centerY "972.8897084809887"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "e144a" ; - gpml:height "24.999999999999968"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "cf59e" ; + gpml:groupRef "c3ba6" ; + gpml:height "25.000000000000075"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "VCP" ; + gpml:textlabel "UFD1" ; gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "96.95437415472591"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P55072" ; - gpml:zorder "33333"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ce748" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "649.1596343178618"^^xsd:double ; - gpml:y "797.93600562588"^^xsd:double . - - - rdf:type gpml:Group ; - dcterms:isPartOf ; - gpml:graphId "a33c3" ; - gpml:groupId "a7bc4" ; - gpml:style "Group" . + gpml:xrefId "Q92890" ; + gpml:zorder "33393"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e2ca2" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "138.1874846657468"^^xsd:double . + + rdf:type gpml:Label ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "1819.6252877585634"^^xsd:double ; + gpml:centerY "863.9080949138895"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "e9842" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/300919" ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "MRX99" ; + gpml:valign "Middle" ; + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33331"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "182.25477102149193"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "145.0255102040819"^^xsd:double ; + gpml:centerY "741.9230557233752"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "ec63a" ; + gpml:fontWeight "Normal" ; + gpml:graphId "ade9c" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PAM16" ; - gpml:type "GeneProduct" ; + gpml:textlabel "COQ3" ; + gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000217930" ; - gpml:zorder "33274"^^xsd:long . + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q9NZJ6" ; + gpml:zorder "33116"^^xsd:long . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "afb98" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33314"^^xsd:long . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Spinocerebellar ataxia type 28" . + dcterms:isPartOf ; + gpml:commentText "Dilated cardiomyopathy with ataxia" . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "MICOS complex subunit MIC13 deficiency" . + dcterms:isPartOf ; + gpml:commentText "encephalopathy due to defective mitochondrondrial and peroxisomal fission type 2" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f334b" ; + dcterms:isPartOf , ; + gpml:graphRef "fc319" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "564.142053445851"^^xsd:double ; - gpml:y "844.1912798874816"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "da100" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "435.58790644270573"^^xsd:double ; - gpml:y "972.8897084809889"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "dae41" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "612.9282456381248"^^xsd:double ; - gpml:y "972.8182978203168"^^xsd:double . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "e3f" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b6e51" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33076"^^xsd:long . + gpml:x "611.0"^^xsd:double ; + gpml:y "308.88425925925924"^^xsd:double . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "dc157" ; - gpml:hasPoint , ; - gpml:lineStyle "Solid" ; + gpml:graphId "b1c4a" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33073"^^xsd:long . + gpml:zorder "33290"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "fdf22" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1368.9216899044666"^^xsd:double ; + gpml:y "984.2102425875993"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "262.0"^^xsd:double ; + gpml:centerX "739.1041486603274"^^xsd:double ; + gpml:centerY "378.1002592912707"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -842,74 +975,61 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "edf4e" ; + gpml:graphId "c475a" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "C1QBP" ; + gpml:textlabel "PRKN" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000108561" ; - gpml:zorder "33120"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b5838" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1431.8799177780106"^^xsd:double ; - gpml:y "453.3123102231409"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "efa26" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "519.142053445851"^^xsd:double ; - gpml:y "791.2148382559774"^^xsd:double . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "e9425" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33367"^^xsd:long . + gpml:xrefId "ENSG00000185345" ; + gpml:zorder "33182"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e4755" ; + dcterms:isPartOf , ; + gpml:graphRef "a2ca6" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "585.592890412089"^^xsd:double ; + gpml:x "385.31151136666256"^^xsd:double ; gpml:y "1082.8255274754144"^^xsd:double . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "d7894" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33250"^^xsd:long . + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "1664.8804197939114"^^xsd:double ; + gpml:centerY "699.4311945430684"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "b3716" ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "PINK1" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000158828" ; + gpml:zorder "33325"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "437.0"^^xsd:double ; + gpml:centerX "1323.9216899044666"^^xsd:double ; + gpml:centerY "930.8140161725058"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -918,65 +1038,78 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "bfa4e" ; + gpml:graphId "b889b" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "HTRA2" ; + gpml:textlabel "ATAD3A" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000115317" ; - gpml:zorder "33127"^^xsd:long . + gpml:xrefId "ENSG00000197785" ; + gpml:zorder "33359"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Dynamin-like protein 1 deficiency" . + + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1479.5157687286671"^^xsd:double ; - gpml:centerY "971.0026954177887"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "458.25"^^xsd:double ; + gpml:centerY "308.88425925925924"^^xsd:double ; + gpml:color "0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "be9db" ; - gpml:hasComment , , , ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://www.iembase.com/disorder/1234" ; + gpml:graphId "fc319" ; + gpml:height "376.7685185185184"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; + gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MIC13" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33382"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "\"Given that we identified COQ5 as part of the interactome of RTN4IP1-TurboID, it will be intriguing to further investigate whether RTN4IP1 can assist this reaction of COQ5.\" DOI: https://doi.org/10.1038/s41589-023-01452-w" . + gpml:width "305.5"^^xsd:double ; + gpml:zorder "33140"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e4858" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1107.058140891917"^^xsd:double ; - gpml:y "171.05660377358518"^^xsd:double . + + rdf:type gpml:shape ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "554.3443636989259"^^xsd:double ; + gpml:centerY "188.201712463832"^^xsd:double ; + gpml:color "c0c0c0" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "c5f78" ; + gpml:height "8.598352231477302"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "2.660430208849843"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; + gpml:valign "Middle" ; + gpml:width "24.96026874658877"^^xsd:double ; + gpml:zorder "33164"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "535.5"^^xsd:double ; - gpml:centerY "331.0"^^xsd:double ; + gpml:centerY "406.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -985,46 +1118,25 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "b1a93" ; + gpml:graphId "d9be1" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "DNM1L" ; + gpml:textlabel "STAT2" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000087470" ; - gpml:zorder "33144"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b7b74" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33380"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "3-METHYLGLUTACONIC ACIDURIA, TYPE IX" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Combined oxidative phosphorylation deficiency type 33" . + gpml:xrefId "ENSG00000170581" ; + gpml:zorder "33147"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.7563887861609"^^xsd:double ; - gpml:centerY "239.2703529690844"^^xsd:double ; + gpml:centerX "1485.93086306829"^^xsd:double ; + gpml:centerY "182.25477102149193"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -1033,159 +1145,99 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b4112" ; - gpml:hasComment ; - gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/617086" ; + gpml:graphId "eb5b1" ; + gpml:hasComment , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/613320" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MFF deficiency" ; + gpml:textlabel "SMDMDM" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33223"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b8bd9" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "552.3651982897275"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e4755" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "488.6385162573631"^^xsd:double ; - gpml:y "1082.8255274754144"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c8fb8" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "453.31231022314086"^^xsd:double . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "ffbfa" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33209"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b3716" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939114"^^xsd:double ; - gpml:y "699.4311945430684"^^xsd:double . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33275"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1479.5157687286671"^^xsd:double ; - gpml:centerY "781.4400705850414"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "1664.8804197939116"^^xsd:double ; + gpml:centerY "471.4014882383834"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "cdeb9" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/617222" ; + gpml:fontWeight "Bold" ; + gpml:graphId "ae348" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "SCFI" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "OPA1" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33351"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000198836" ; + gpml:zorder "33238"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "cc4e5" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "145.0255102040819"^^xsd:double ; - gpml:y "909.4801038295545"^^xsd:double . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "d549a" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33276"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.880419793911"^^xsd:double ; - gpml:centerY "945.2517985611508"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "212.40233543942497"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "d5d0e" ; - gpml:hasComment ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "ad60d" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/212350" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "YME1L1" ; - gpml:type "Protein" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "Sengers syndrome" ; gpml:valign "Middle" ; - gpml:width "96.95437415472591"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q96TA2" ; - gpml:zorder "33108"^^xsd:long . - - - rdfs:seeAlso ; - gpml:biopaxRef "ce4" ; - gpml:boardHeight "1135.445116681073"^^xsd:double ; - gpml:boardWidth "1914.4191794838353"^^xsd:double ; - gpml:hasDataNode , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; - gpml:hasGraphicalLine , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; - gpml:hasGroup , , , , , , ; - gpml:hasInfoBox ; - gpml:hasInteraction , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; - gpml:hasLabel , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; - gpml:hasShape , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; - gpml:name "Disorders of Mitochondrial Homeostatis, Dynamics, Protein Import, and Quality Control" ; - gpml:organism "Homo sapiens" ; - gpml:version "20241214" . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33278"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e403b" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "456.9459554805978"^^xsd:double . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "a9b7e" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33258"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "1323.9216899044666"^^xsd:double ; - gpml:centerY "781.4400705850414"^^xsd:double ; + gpml:centerY "1043.2050103060092"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -1194,25 +1246,25 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "ab4df" ; + gpml:graphId "fa9c3" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PPA2" ; + gpml:textlabel "MICU1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000138777" ; - gpml:zorder "33346"^^xsd:long . + gpml:xrefId "ENSG00000107745" ; + gpml:zorder "33375"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.880419793911"^^xsd:double ; - gpml:centerY "863.9080949138895"^^xsd:double ; + gpml:centerX "1004.4347826086959"^^xsd:double ; + gpml:centerY "105.91738408516973"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -1221,86 +1273,103 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "c8d5c" ; - gpml:hasComment , ; + gpml:graphId "efb00" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "USP9X" ; - gpml:type "Protein" ; + gpml:textlabel "AFG3L2" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "96.95437415472591"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q93008" ; - gpml:zorder "33330"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000141385" ; + gpml:zorder "33311"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "c5888" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33253"^^xsd:long . + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "de4" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "dbb70" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33206"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c2ef6" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "f1e44" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.6982492512773"^^xsd:double ; - gpml:y "201.127382957748"^^xsd:double . + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "372.9654603733909"^^xsd:double . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "559.3443636989259"^^xsd:double ; - gpml:centerY "265.201712463832"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "1484.610108351309"^^xsd:double ; + gpml:centerY "609.1759196416448"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "cfc3d" ; - gpml:height "8.598352231477302"^^xsd:double ; + gpml:graphId "c3c10" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/613159" ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "3.8476893786001436"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "NPHPL1" ; gpml:valign "Middle" ; - gpml:width "24.96026874658877"^^xsd:double ; - gpml:zorder "33166"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33344"^^xsd:long . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Demyelinating Charcot-Marie-Tooth disease type 4A" . + + rdf:type gpml:shape ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "160.25"^^xsd:double ; + gpml:centerY "323.75"^^xsd:double ; + gpml:color "0" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "c6a4e" ; + gpml:height "316.5"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shape "0.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "" ; + gpml:valign "Middle" ; + gpml:width "195.5"^^xsd:double ; + gpml:zorder "33094"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "d6781" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33240"^^xsd:long . + + rdf:type gpml:PublicationXref ; + dcterms:isPartOf , , , , , , , ; + gpml:database "Pubmed" ; + gpml:id "38891822" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.434782608696"^^xsd:double ; - gpml:centerY "685.5252814498098"^^xsd:double ; + gpml:centerX "1323.9216899044666"^^xsd:double ; + gpml:centerY "875.1861423814798"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -1309,51 +1378,34 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "ea313" ; + gpml:graphId "b60c6" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "LONP1" ; - gpml:type "Protein" ; + gpml:textlabel "TXNRD2" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P36776" ; - gpml:zorder "33297"^^xsd:long . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "de4" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "e0d33" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33085"^^xsd:long . + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000184470" ; + gpml:zorder "33387"^^xsd:long . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "c66" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "f1b88" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33074"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e4755" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "585.592890412089"^^xsd:double ; + gpml:y "1082.8255274754144"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "737.610630942092"^^xsd:double ; - gpml:centerY "291.71460354044575"^^xsd:double ; + gpml:centerY "187.84356093344852"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -1362,332 +1414,352 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "d37dc" ; + gpml:graphId "a6eee" ; gpml:height "25.0"^^xsd:double ; gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "None" ; - gpml:textlabel "Mitophagy" ; + gpml:textlabel "Mitochondrial\ndysfunction" ; gpml:valign "Middle" ; gpml:width "95.34053586862709"^^xsd:double ; - gpml:zorder "33179"^^xsd:long . + gpml:zorder "33178"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "C1q-binding protein deficiency" . - + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "a369e" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33310"^^xsd:long . + + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "cc400" ; + dcterms:isPartOf , ; + gpml:graphRef "b723b" ; gpml:relX "0.0"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "417.9930648063231"^^xsd:double ; - gpml:y "1052.022162261105"^^xsd:double . - - - rdf:type gpml:PublicationXref ; - dcterms:isPartOf , , , , , , , ; - gpml:database "Pubmed" ; - gpml:id "38891822" . + gpml:relY "-1.0"^^xsd:double ; + gpml:x "710.42194092827"^^xsd:double ; + gpml:y "826.6895218002805"^^xsd:double . - - rdf:type gpml:Label ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "1820.7563887861606"^^xsd:double ; - gpml:centerY "359.628751283582"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "f32bc" ; - gpml:hasComment ; - gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/609260" ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "CMT2A2A" ; - gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33247"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f32bc" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1765.698249251277"^^xsd:double ; + gpml:y "359.628751283582"^^xsd:double . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1256.22641509434"^^xsd:double ; - gpml:centerY "400.5660377358491"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "384.13954341560066"^^xsd:double ; + gpml:centerY "232.52051360790466"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "d7991" ; - gpml:height "667.9245283018867"^^xsd:double ; + gpml:graphId "eba1b" ; + gpml:height "11.290407690665027"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "4.604188171336977"^^xsd:double ; + gpml:shapeType "Mitochondria" ; gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "628.3018867924535"^^xsd:double ; - gpml:zorder "33347"^^xsd:long . + gpml:width "70.89191721537954"^^xsd:double ; + gpml:zorder "33151"^^xsd:long . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "f20" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "d1326" ; - gpml:hasAnchor ; - gpml:hasComment ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33086"^^xsd:long . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "c7cc7" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33364"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "c22d1" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33081"^^xsd:long . + + + rdf:type gpml:InfoBox ; + dcterms:isPartOf ; + gpml:centerX "0.0"^^xsd:double ; + gpml:centerY "0.0"^^xsd:double . + + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "326.9698548261071"^^xsd:double ; - gpml:centerY "986.4909882215867"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "495.2672441270403"^^xsd:double ; + gpml:centerY "229.89952101964715"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c704b" ; - gpml:groupRef "c3110" ; - gpml:hasComment ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "c5066" ; + gpml:height "8.598352231477302"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "NPLOC4" ; - gpml:type "Protein" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "4.733382054338651"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q8TAT6" ; - gpml:zorder "33392"^^xsd:long . + gpml:width "32.82927389901314"^^xsd:double ; + gpml:zorder "33157"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "efc96" ; + dcterms:isPartOf , ; + gpml:graphRef "e0ebc" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1764.5671482236799"^^xsd:double ; - gpml:y "945.2517985611506"^^xsd:double . + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "593.5502294747585"^^xsd:double . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "bc7ea" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33088"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1132.8314843537235"^^xsd:double ; - gpml:centerY "965.4357750914614"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1004.434782608696"^^xsd:double ; + gpml:centerY "504.4961754207037"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "eb1bf" ; - gpml:groupRef "a7bc4" ; - gpml:height "25.00000000000001"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "a724c" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MFN1" ; - gpml:type "Protein" ; + gpml:textlabel "HSPA9" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q8IWA4" ; - gpml:zorder "33406"^^xsd:long . + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000113013" ; + gpml:zorder "33300"^^xsd:long . - - rdf:type gpml:Anchor ; - dcterms:isPartOf , ; - gpml:graphId "eee98" ; - gpml:position "0.5138869601444247"^^xsd:double ; - gpml:shape "None" . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "a33c3" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1079.8314843537235"^^xsd:double ; + gpml:y "977.9357750914614"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "145.0255102040819"^^xsd:double ; - gpml:centerY "896.9801038295545"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "456.9459554805978"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "cc4e5" ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "e403b" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/613076" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "OXA1L" ; - gpml:type "Protein" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "GFER deficiency" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q15070" ; - gpml:zorder "33104"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33272"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "212.0"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "a0ce6" ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "AIFM1" ; - gpml:type "GeneProduct" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000156709" ; - gpml:zorder "33118"^^xsd:long . + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "c66" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "a8ea0" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33403"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "ce009" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33080"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Dystonia Deafness Syndrome" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e7cb3" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1424.4576291937838"^^xsd:double ; + gpml:y "875.1861423814798"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Autosomal recessive spastic ataxia of Charlevoix-Saguenay" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "IEMNosology code: IEM0614" . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "405.83007524598315"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "1404.4162578682601"^^xsd:double ; + gpml:centerY "746.1234339367758"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "d4049" ; + gpml:fontWeight "Normal" ; + gpml:graphId "b4a81" ; gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "SFXN4" ; - gpml:type "GeneProduct" ; + gpml:shapeType "None" ; + gpml:textlabel "Mitochondrial function" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000183605" ; - gpml:zorder "33353"^^xsd:long . + gpml:width "223.0"^^xsd:double ; + gpml:zorder "33350"^^xsd:long . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "fae0a" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33296"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b56b7" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "92.03713714969838"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "a37f0" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "239.2703529690844"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1253.4056603773577"^^xsd:double ; - gpml:centerY "51.978832700053744"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1820.7563887861609"^^xsd:double ; + gpml:centerY "138.14099751352933"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "14.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "f4367" ; + gpml:graphId "b386b" ; + gpml:hasComment , ; gpml:height "25.0"^^xsd:double ; - gpml:href "" ; + gpml:href "https://omim.org/entry/614388" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Mitochondrial biogenesis" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "DLP1 deficiency" ; gpml:valign "Middle" ; - gpml:width "223.0"^^xsd:double ; - gpml:zorder "33348"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ad60d" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "212.40233543942497"^^xsd:double . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33101"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "cb759" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1430.8727235334063"^^xsd:double ; - gpml:y "489.8440360698489"^^xsd:double . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "e9fdd" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33270"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Mitochondrial intermediate peptidase deficiency" . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b5367" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33324"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "ID in OMIM for gene (https://omim.org/entry/619405)" . + dcterms:isPartOf , ; + gpml:graphRef "cc400" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "417.9930648063231"^^xsd:double ; + gpml:y "1052.022162261105"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.8804197939116"^^xsd:double ; - gpml:centerY "138.14099751352933"^^xsd:double ; + gpml:centerX "383.3794295592049"^^xsd:double ; + gpml:centerY "389.2713915298186"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -1696,138 +1768,66 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "d7890" ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "de3bb" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "DNM1L" ; + gpml:textlabel "OPA1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000087470" ; - gpml:zorder "33221"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fbd15" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "621.5712879890323"^^xsd:double ; - gpml:y "1082.8255274754147"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d44d9" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "927.1800281293953"^^xsd:double ; - gpml:y "844.3459915611817"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ac59e" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "665.42194092827"^^xsd:double ; - gpml:y "773.7130801687765"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a57b7" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "807.6300984528837"^^xsd:double ; - gpml:y "754.0225035161747"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d7203" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "928.4317862165962"^^xsd:double ; - gpml:y "770.9001406469761"^^xsd:double . + gpml:xrefId "ENSG00000198836" ; + gpml:zorder "33171"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c8d84" ; + dcterms:isPartOf , ; + gpml:graphRef "ce651" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1368.9216899044666"^^xsd:double ; - gpml:y "825.4023347359844"^^xsd:double . + gpml:x "1049.4347826086957"^^xsd:double ; + gpml:y "171.05660377358518"^^xsd:double . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "c66" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "a9673" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33413"^^xsd:long . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "X-linked Mitochondrial Myopathy" . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.7563887861609"^^xsd:double ; - gpml:centerY "169.42195660115897"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "1664.8804197939114"^^xsd:double ; + gpml:centerY "792.0582155873584"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "b0609" ; - gpml:hasComment ; + gpml:fontWeight "Bold" ; + gpml:graphId "c2caf" ; gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/607831" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "CMT2K" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "SACS?" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33226"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "ea36a" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33372"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "eee98" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "613.3755274261604"^^xsd:double ; - gpml:y "773.7130801687764"^^xsd:double . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q9NZJ4" ; + gpml:zorder "33308"^^xsd:long . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "361.13954341560066"^^xsd:double ; - gpml:centerY "244.52051360790466"^^xsd:double ; + gpml:centerX "421.13954341560066"^^xsd:double ; + gpml:centerY "211.52051360790466"^^xsd:double ; gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; @@ -1835,112 +1835,59 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "da172" ; + gpml:graphId "dc1ef" ; gpml:height "11.290407690665027"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "4.4294904647988655"^^xsd:double ; + gpml:shape "5.067106844281983"^^xsd:double ; gpml:shapeType "Mitochondria" ; gpml:textlabel "" ; gpml:valign "Middle" ; gpml:width "70.89191721537954"^^xsd:double ; - gpml:zorder "33154"^^xsd:long . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:biopaxRef "de4" ; - gpml:centerX "710.42194092827"^^xsd:double ; - gpml:centerY "773.7130801687765"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "ac59e" ; - gpml:hasComment ; - gpml:hasPublicationXref ; - gpml:height "35.00351617440231"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "pyrroline-5-\ncarboxylate" ; - gpml:type "Metabolite" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:15893" ; - gpml:zorder "33112"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ac59e" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "-0.5"^^xsd:double ; - gpml:x "755.42194092827"^^xsd:double ; - gpml:y "764.962201125176"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "SPINOCEREBELLAR ATAXIA" . + gpml:zorder "33152"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "537.115703334726"^^xsd:double ; - gpml:centerY "1082.8255274754144"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1664.8804197939114"^^xsd:double ; + gpml:centerY "747.8124895070985"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "e4755" ; - gpml:height "25.000000000000075"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "fa733" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MCL1" ; - gpml:type "Protein" ; + gpml:textlabel "PRKN" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "96.95437415472591"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q07820" ; - gpml:zorder "33410"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e5e91" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1424.4576291937838"^^xsd:double ; - gpml:y "1043.2050103060094"^^xsd:double . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000185345" ; + gpml:zorder "33322"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fbdf0" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "184.49172404302004"^^xsd:double . + dcterms:isPartOf , ; + gpml:graphRef "d73d6" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "145.0255102040815"^^xsd:double ; + gpml:y "700.9404690146097"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "187.0"^^xsd:double ; + gpml:centerY "412.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -1949,25 +1896,41 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "ebb1a" ; + gpml:graphId "e2c90" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MIPEP" ; + gpml:textlabel "TIMMDC1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000027001" ; - gpml:zorder "33129"^^xsd:long . + gpml:xrefId "ENSG00000113845" ; + gpml:zorder "33138"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Spinocerebellar ataxia type 28" . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "dca9b" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33210"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.381748686096"^^xsd:double ; - gpml:centerY "609.1759196416448"^^xsd:double ; + gpml:centerX "1321.3817486860962"^^xsd:double ; + gpml:centerY "182.25477102149193"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -1976,26 +1939,50 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "b4329" ; - gpml:hasComment ; + gpml:graphId "ec63a" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "XPNPEP3 " ; + gpml:textlabel "PAM16" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000196236" ; - gpml:zorder "33343"^^xsd:long . + gpml:xrefId "ENSG00000217930" ; + gpml:zorder "33274"^^xsd:long . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "bf461" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33352"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "eee98" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "613.3755274261604"^^xsd:double ; + gpml:y "773.7130801687764"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Sideoblastic anemia type 4" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.434782608696"^^xsd:double ; - gpml:centerY "404.4257992633706"^^xsd:double ; + gpml:centerX "1321.3817486860962"^^xsd:double ; + gpml:centerY "529.4877945969174"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -2004,25 +1991,25 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "cb0f5" ; + gpml:graphId "e66bb" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "DNAJC19" ; + gpml:textlabel "TIMM50" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000205981" ; - gpml:zorder "33259"^^xsd:long . + gpml:xrefId "ENSG00000105197" ; + gpml:zorder "33268"^^xsd:long . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "520.3443636989259"^^xsd:double ; - gpml:centerY "243.201712463832"^^xsd:double ; + gpml:centerX "616.1181434599155"^^xsd:double ; + gpml:centerY "855.6751054852323"^^xsd:double ; gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; @@ -2030,62 +2017,23 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "ff346" ; - gpml:height "8.598352231477302"^^xsd:double ; + gpml:graphId "cbf03" ; + gpml:height "113.29113924050671"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "2.331357265694436"^^xsd:double ; + gpml:shape "0.0"^^xsd:double ; gpml:shapeType "Mitochondria" ; gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "24.96026874658877"^^xsd:double ; - gpml:zorder "33165"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Nephronophthisis-like nephropathy type 1" . - - - rdf:type gpml:Label ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "447.75064822817603"^^xsd:double ; - gpml:centerY "91.03543647363864"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "14.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "c348b" ; - gpml:height "25.0"^^xsd:double ; - gpml:href "" ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Mitochondrial biogenesis" ; - gpml:valign "Middle" ; - gpml:width "223.0"^^xsd:double ; - gpml:zorder "33141"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a043c" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "855.4294589721422"^^xsd:double ; - gpml:y "978.4230609918563"^^xsd:double . + gpml:width "374.2616033755277"^^xsd:double ; + gpml:zorder "33093"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "642.7066581433176"^^xsd:double ; - gpml:centerY "596.2857142857134"^^xsd:double ; + gpml:centerX "535.5"^^xsd:double ; + gpml:centerY "381.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -2094,25 +2042,25 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "f2e14" ; + gpml:graphId "ea5e7" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "ATAD3A" ; + gpml:textlabel "MFF" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000197785" ; - gpml:zorder "33194"^^xsd:long . + gpml:xrefId "ENSG00000168958" ; + gpml:zorder "33146"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "412.0"^^xsd:double ; + gpml:centerY "262.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -2121,58 +2069,61 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "e932c" ; + gpml:graphId "edf4e" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "HSPD1" ; + gpml:textlabel "C1QBP" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000144381" ; - gpml:zorder "33126"^^xsd:long . + gpml:xrefId "ENSG00000108561" ; + gpml:zorder "33120"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b4112" ; + dcterms:isPartOf , ; + gpml:graphRef "fbd15" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.6982492512773"^^xsd:double ; - gpml:y "239.2703529690844"^^xsd:double . + gpml:x "621.5712879890323"^^xsd:double ; + gpml:y "1082.8255274754147"^^xsd:double . - - rdf:type gpml:shape ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "739.1011235955048"^^xsd:double ; - gpml:centerY "378.18993085566126"^^xsd:double ; - gpml:color "0" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "a8686" ; - gpml:height "89.89498703543612"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "" ; - gpml:valign "Middle" ; - gpml:width "115.81676750216083"^^xsd:double ; - gpml:zorder "33180"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "d44d9" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "927.1800281293953"^^xsd:double ; + gpml:y "844.3459915611817"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ac59e" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "665.42194092827"^^xsd:double ; + gpml:y "773.7130801687765"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "a57b7" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "807.6300984528837"^^xsd:double ; + gpml:y "754.0225035161747"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "533.5"^^xsd:double ; - gpml:centerY "145.0"^^xsd:double ; + gpml:centerX "535.5"^^xsd:double ; + gpml:centerY "436.363894811656"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -2181,103 +2132,73 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "ddcaa" ; + gpml:graphId "c7a28" ; gpml:height "25.0"^^xsd:double ; gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "None" ; - gpml:textlabel "Fragmented\nmitochondria" ; + gpml:textlabel "Motility" ; gpml:valign "Middle" ; - gpml:width "141.0"^^xsd:double ; - gpml:zorder "33143"^^xsd:long . + gpml:width "83.0"^^xsd:double ; + gpml:zorder "33150"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "eacc7" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1764.5671482236799"^^xsd:double ; - gpml:y "994.1173570009523"^^xsd:double . + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:biopaxRef "de4" ; + gpml:centerX "586.0302390998597"^^xsd:double ; + gpml:centerY "810.4360056258801"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "b6e2a" ; + gpml:hasComment ; + gpml:hasPublicationXref ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "PYCR1" ; + gpml:type "Protein" ; + gpml:valign "Middle" ; + gpml:width "63.1293952180022"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "P32322" ; + gpml:zorder "33218"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c7697" ; + dcterms:isPartOf , ; + gpml:graphRef "d7203" ; gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.698249251277"^^xsd:double ; - gpml:y "485.2132153464223"^^xsd:double . - - - rdf:type gpml:Label ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "129.06416417672543"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "c9bf0" ; - gpml:hasComment , ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/212350" ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "SCA28" ; - gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33313"^^xsd:long . + gpml:relY "0.0"^^xsd:double ; + gpml:x "928.4317862165962"^^xsd:double ; + gpml:y "770.9001406469761"^^xsd:double . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "ab204" ; - gpml:hasPoint , ; + gpml:graphId "e9b7b" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33232"^^xsd:long . - - - rdf:type gpml:Anchor ; - dcterms:isPartOf , ; - gpml:graphId "a043c" ; - gpml:position "0.4"^^xsd:double ; - gpml:shape "None" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e9842" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1764.5671482236799"^^xsd:double ; - gpml:y "863.9080949138895"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "be7eb" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "355.9565344663881"^^xsd:double . + gpml:zorder "33342"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.8804197939116"^^xsd:double ; - gpml:centerY "239.2703529690844"^^xsd:double ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "437.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -2286,151 +2207,60 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "a37f0" ; + gpml:graphId "bfa4e" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MFF" ; + gpml:textlabel "HTRA2" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000168958" ; - gpml:zorder "33222"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "da100" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "556.5422805974316"^^xsd:double ; - gpml:y "972.8897084809889"^^xsd:double . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "c90bb" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33335"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "fe53f" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33229"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c43b2" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "245.24083462376404"^^xsd:double . + gpml:xrefId "ENSG00000115317" ; + gpml:zorder "33127"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ae67b" ; + dcterms:isPartOf , ; + gpml:graphRef "eee98" ; gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "825.0310559006213"^^xsd:double ; - gpml:y "1017.5"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fbdf0" ; - gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "184.49172404302004"^^xsd:double . - - - rdf:type gpml:Group ; - dcterms:isPartOf ; - gpml:graphId "c3635" ; - gpml:groupId "b7d9d" ; - gpml:style "Complex" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "MITOL/March5" . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "145.0255102040815"^^xsd:double ; - gpml:centerY "688.4404690146097"^^xsd:double ; - gpml:color "14961e" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "d73d6" ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "CoQ Biosynthesis" ; - gpml:type "Pathway" ; - gpml:valign "Middle" ; - gpml:width "120.25510204081642"^^xsd:double ; - gpml:xrefDataSource "WikiPathways" ; - gpml:xrefId "WP5037" ; - gpml:zorder "33117"^^xsd:long . + gpml:x "613.3755274261604"^^xsd:double ; + gpml:y "773.7130801687764"^^xsd:double . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Myopathy with extrapyramidal signs" . + dcterms:isPartOf ; + gpml:commentText "\"Given that we identified COQ5 as part of the interactome of RTN4IP1-TurboID, it will be intriguing to further investigate whether RTN4IP1 can assist this reaction of COQ5.\" DOI: https://doi.org/10.1038/s41589-023-01452-w" . - + rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "Degradation" . + dcterms:isPartOf ; + gpml:commentText "3-methylglutaconice aciduria type 5" . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Autosomal recessive spinocerebellar ataxia type 2" . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "ce2e6" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33090"^^xsd:long . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia type 1" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ec63a" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "182.25477102149193"^^xsd:double . + dcterms:isPartOf , ; + gpml:commentText "Found in transgenic mouse model" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "237.0"^^xsd:double ; + gpml:centerY "287.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -2439,42 +2269,26 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "da7f4" ; + gpml:graphId "c7d23" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PITRM1" ; + gpml:textlabel "PMPCB" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000107959" ; - gpml:zorder "33131"^^xsd:long . - - - rdf:type gpml:Anchor ; - dcterms:isPartOf , ; - gpml:graphId "dab6e" ; - gpml:position "0.528606673079381"^^xsd:double ; - gpml:shape "None" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d6ffb" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1430.8727235334063"^^xsd:double ; - gpml:y "405.5791759758225"^^xsd:double . + gpml:xrefId "ENSG00000105819" ; + gpml:zorder "33133"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:biopaxRef "de4" ; - gpml:centerX "852.6300984528837"^^xsd:double ; - gpml:centerY "754.0225035161747"^^xsd:double ; + gpml:centerX "852.6300984528835"^^xsd:double ; + gpml:centerY "869.8171589310828"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -2483,117 +2297,72 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "a57b7" ; + gpml:graphId "e8d9d" ; + gpml:hasComment ; gpml:hasPublicationXref ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "arginine" ; + gpml:textlabel "α-Ketoglutarate" ; gpml:type "Metabolite" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:29016" ; - gpml:zorder "33106"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ed9d8" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447471"^^xsd:double ; - gpml:y "646.4401877525798"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1044.7692824689352"^^xsd:double ; - gpml:y "978.1003702857859"^^xsd:double . + gpml:xrefId "CHEBI:30915" ; + gpml:zorder "33215"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c9bf0" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "129.06416417672543"^^xsd:double . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "d5e39" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33391"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1323.9216899044666"^^xsd:double ; - gpml:centerY "825.4023347359844"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "514.9881707483606"^^xsd:double ; + gpml:centerY "607.7731092436969"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "c8d84" ; + gpml:fontStyle "Italic" ; + gpml:fontWeight "Normal" ; + gpml:graphId "ba52c" ; gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "TXN2" ; - gpml:type "GeneProduct" ; + gpml:shapeType "None" ; + gpml:textlabel "Contact site and\ncristae organization" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000100348" ; - gpml:zorder "33386"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Early-onset Parkinson disease type 2" . + gpml:width "103.51260504201679"^^xsd:double ; + gpml:zorder "33191"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b6e2a" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "586.0302390998597"^^xsd:double ; - gpml:y "797.9360056258801"^^xsd:double . - - - rdf:type gpml:shape ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "554.3443636989259"^^xsd:double ; - gpml:centerY "188.201712463832"^^xsd:double ; - gpml:color "c0c0c0" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "c5f78" ; - gpml:height "8.598352231477302"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "2.660430208849843"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; - gpml:valign "Middle" ; - gpml:width "24.96026874658877"^^xsd:double ; - gpml:zorder "33164"^^xsd:long . + dcterms:isPartOf , ; + gpml:graphRef "ef49a" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "316.98208983442885"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1485.93086306829"^^xsd:double ; - gpml:centerY "182.25477102149193"^^xsd:double ; + gpml:centerX "1820.7563887861606"^^xsd:double ; + gpml:centerY "524.4664808528587"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -2602,24 +2371,24 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "eb5b1" ; - gpml:hasComment , ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/613320" ; + gpml:graphId "f5a0b" ; + gpml:hasComment , ; + gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/258501" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "SMDMDM" ; + gpml:textlabel "MGA3" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33275"^^xsd:long . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33244"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "212.40233543942497"^^xsd:double ; + gpml:centerX "1484.610108351309"^^xsd:double ; + gpml:centerY "529.3077742307314"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -2628,61 +2397,24 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "ad60d" ; - gpml:hasComment ; + gpml:graphId "ad43f" ; + gpml:hasComment , , ; gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/212350" ; + gpml:href "https://omim.org/entry/617698" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "Sengers syndrome" ; + gpml:textlabel "MGCA9" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33278"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f334b" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "519.142053445851"^^xsd:double ; - gpml:y "826.6895218002805"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f8efc" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939107"^^xsd:double ; - gpml:y "1041.8532060575558"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c9c4b" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "227.4023354394256"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Mitochondrial myopathy and ataxia" . + gpml:zorder "33269"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1484.610108351309"^^xsd:double ; - gpml:centerY "609.1759196416448"^^xsd:double ; + gpml:centerX "1488.7366184639732"^^xsd:double ; + gpml:centerY "276.78714512221137"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -2691,145 +2423,135 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c3c10" ; - gpml:hasComment ; + gpml:graphId "a7cb6" ; + gpml:hasComment ; gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/613159" ; + gpml:href "https://omim.org/entry/619405" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "NPHPL1" ; + gpml:textlabel "SCAR30" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33344"^^xsd:long . + gpml:zorder "33339"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ab4df" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1368.9216899044666"^^xsd:double ; + gpml:y "781.4400705850414"^^xsd:double . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "160.25"^^xsd:double ; - gpml:centerY "323.75"^^xsd:double ; + gpml:centerX "669.2415559233458"^^xsd:double ; + gpml:centerY "1082.8255274754144"^^xsd:double ; gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "c6a4e" ; - gpml:height "316.5"^^xsd:double ; + gpml:fontStyle "Italic" ; + gpml:fontWeight "Normal" ; + gpml:graphId "fbd15" ; + gpml:height "45.2391784113167"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "" ; + gpml:shapeType "None" ; + gpml:textlabel "Mitochondrial\nMembrane\nPotential" ; gpml:valign "Middle" ; - gpml:width "195.5"^^xsd:double ; - gpml:zorder "33094"^^xsd:long . + gpml:width "95.34053586862709"^^xsd:double ; + gpml:zorder "33414"^^xsd:long . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "mitochondrial processing peptidase alpha deficiency" . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c3ec5" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1430.8727235334063"^^xsd:double ; + gpml:y "355.95653446638823"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "237.0"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "245.24083462376404"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "d7f52" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "c43b2" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/614691" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "AGK" ; - gpml:type "GeneProduct" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "Cataract 38 (AR)" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000006530" ; - gpml:zorder "33119"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33279"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Hypomyelinating leukodystrophy type 4 (recessive)" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "1664.8804197939114"^^xsd:double ; - gpml:centerY "609.9169978395636"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "960.9172941350466"^^xsd:double ; + gpml:centerY "1015.7101004153354"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "a38b8" ; - gpml:height "25.00000000000001"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "ffd5e" ; + gpml:groupRef "b7d9d" ; + gpml:height "24.99999999999994"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "YME1L1" ; - gpml:type "GeneProduct" ; + gpml:textlabel "p47" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000136758" ; - gpml:zorder "33256"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Juvenile Optic Atrophy" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ade9c" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "145.0255102040819"^^xsd:double ; - gpml:y "729.4230557233752"^^xsd:double . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "c66" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b2d20" ; - gpml:hasAnchor ; - gpml:hasComment ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33418"^^xsd:long . + gpml:width "96.95437415472593"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "P08567" ; + gpml:zorder "33402"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e838c" ; + dcterms:isPartOf , ; + gpml:graphRef "b3895" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.358515130155"^^xsd:double ; - gpml:y "700.258532672566"^^xsd:double . + gpml:x "1107.6241786277665"^^xsd:double ; + gpml:y "281.4339622641506"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "567.6411494489925"^^xsd:double ; + gpml:centerX "642.7066581433176"^^xsd:double ; + gpml:centerY "621.2857142857133"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -2838,157 +2560,127 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "d1d50" ; + gpml:graphId "c9cb2" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "TIMMDC1" ; - gpml:type "GeneProduct" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000113845" ; - gpml:zorder "33265"^^xsd:long . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "145.0255102040819"^^xsd:double ; - gpml:centerY "956.4416802610115"^^xsd:double ; - gpml:color "14961e" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "a14a8" ; - gpml:height "35.3384991843393"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "inner membrane \ntranslocation insertion" ; - gpml:type "Pathway" ; - gpml:valign "Middle" ; - gpml:width "164.0864600326264"^^xsd:double ; - gpml:xrefDataSource "WikiPathways" ; - gpml:xrefId "WP2717" ; - gpml:zorder "33115"^^xsd:long . - - - rdf:type gpml:Label ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "737.610630942092"^^xsd:double ; - gpml:centerY "187.84356093344852"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; - gpml:fontWeight "Normal" ; - gpml:graphId "a6eee" ; - gpml:height "25.0"^^xsd:double ; - gpml:href "" ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Mitochondrial\ndysfunction" ; + gpml:textlabel "MICOS13" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "95.34053586862709"^^xsd:double ; - gpml:zorder "33178"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b7f9b" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "456.94595548059783"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "\"COQ3 was the most strongly biotinylated protein by RTN4IP1-TurboID, suggesting a potential involvement of RTN4IP1 in the CoQ production pathway within the mitochondria\" DOI: https://doi.org/10.1038/s41589-023-01452-w" . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000174917" ; + gpml:zorder "33195"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "825.0310559006213"^^xsd:double ; - gpml:centerY "1030.0"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1323.9216899044666"^^xsd:double ; + gpml:centerY "781.4400705850414"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "ae67b" ; + gpml:fontWeight "Bold" ; + gpml:graphId "ab4df" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "p47" ; - gpml:type "Protein" ; + gpml:textlabel "PPA2" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P08567" ; - gpml:zorder "33398"^^xsd:long . + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000138777" ; + gpml:zorder "33346"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c3c10" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1429.5519688164254"^^xsd:double ; + gpml:y "609.1759196416448"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "d9854" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "308.63780149548097"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Not in Figure, but added in Table 46.35" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "aka 2-oxoglutaric acid" . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "afb98" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; + gpml:graphId "ad4a0" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33314"^^xsd:long . + gpml:zorder "33091"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "960.9172941350464"^^xsd:double ; - gpml:centerY "990.7101004153354"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1323.9216899044666"^^xsd:double ; + gpml:centerY "984.2102425875993"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "cd565" ; - gpml:groupRef "b7d9d" ; - gpml:height "24.99999999999994"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "fdf22" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "SASK1" ; - gpml:type "Protein" ; + gpml:textlabel "MICOS13" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "96.95437415472593"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "" ; - gpml:zorder "33401"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000174917" ; + gpml:zorder "33381"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "da100" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "556.5422805974316"^^xsd:double ; + gpml:y "972.8897084809889"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "195.05376537616456"^^xsd:double ; - gpml:centerY "609.8991596638649"^^xsd:double ; + gpml:centerX "1321.3817486860962"^^xsd:double ; + gpml:centerY "138.1874846657468"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -2997,154 +2689,194 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "d775d" ; + gpml:graphId "e2ca2" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PPA2" ; + gpml:textlabel "MIPEP" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000138777" ; - gpml:zorder "33186"^^xsd:long . + gpml:xrefId "ENSG00000027001" ; + gpml:zorder "33288"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ad43f" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1429.5519688164254"^^xsd:double ; + gpml:y "529.3077742307314"^^xsd:double . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "384.13954341560066"^^xsd:double ; - gpml:centerY "232.52051360790466"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "1164.003072879631"^^xsd:double ; + gpml:centerY "552.3651982897275"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "eba1b" ; - gpml:height "11.290407690665027"^^xsd:double ; + gpml:graphId "b8bd9" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/612233" ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "4.604188171336977"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "HLD4" ; gpml:valign "Middle" ; - gpml:width "70.89191721537954"^^xsd:double ; - gpml:zorder "33151"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33304"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f9805" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "d9562" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "422.7678102472463"^^xsd:double . + gpml:x "309.111612086696"^^xsd:double ; + gpml:y "741.7764103711955"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a7f11" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "fc319" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "280.5751060406617"^^xsd:double . + gpml:x "305.5"^^xsd:double ; + gpml:y "308.88425925925924"^^xsd:double . - + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f5a0b" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1765.698249251277"^^xsd:double ; + gpml:y "524.4664808528587"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "e3605" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33293"^^xsd:long . + + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "495.2672441270403"^^xsd:double ; - gpml:centerY "229.89952101964715"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "1405.2830188679245"^^xsd:double ; + gpml:centerY "683.5849056603773"^^xsd:double ; + gpml:color "0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c5066" ; - gpml:height "8.598352231477302"^^xsd:double ; + gpml:graphId "be73d" ; + gpml:height "94.33962264150935"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "4.733382054338651"^^xsd:double ; - gpml:shapeType "Mitochondria" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shape "0.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "32.82927389901314"^^xsd:double ; - gpml:zorder "33157"^^xsd:long . + gpml:width "288.6792452830189"^^xsd:double ; + gpml:zorder "33369"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "cofactor to PYCR3" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ae348" ; + dcterms:isPartOf , ; + gpml:graphRef "f0196" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "471.4014882383834"^^xsd:double . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b1c4a" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33290"^^xsd:long . + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "357.42933354254154"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d5e5d" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "fa9c3" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1424.4576291937838"^^xsd:double ; - gpml:y "1005.530997304581"^^xsd:double . + gpml:x "1368.9216899044666"^^xsd:double ; + gpml:y "1043.2050103060092"^^xsd:double . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b0609" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.6982492512773"^^xsd:double ; - gpml:y "169.42195660115897"^^xsd:double . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Methylglutaconic aciduria type III" . - + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "ID in OMIM for gene (https://omim.org/entry/619405)" . + + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "bff7a" ; - gpml:hasPoint , ; + gpml:graphId "bfead" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33280"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Mohr-Tranebjaerg syndrome" . + gpml:zorder "33345"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d1da1" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1050.132075471698"^^xsd:double ; - gpml:y "281.4339622641506"^^xsd:double . + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "145.0255102040819"^^xsd:double ; + gpml:centerY "785.3061224489807"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "a89d1" ; + gpml:hasComment ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "COQ5" ; + gpml:type "Protein" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q5HYK3" ; + gpml:zorder "33200"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "287.0"^^xsd:double ; + gpml:centerX "1004.4347826086957"^^xsd:double ; + gpml:centerY "171.05660377358518"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -3153,115 +2885,155 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "cd943" ; + gpml:graphId "ce651" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "CLPB" ; + gpml:textlabel "AIFM1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000162129" ; - gpml:zorder "33121"^^xsd:long . + gpml:xrefId "ENSG00000156709" ; + gpml:zorder "33356"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "456.9459554805978"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "362.111612086696"^^xsd:double ; + gpml:centerY "732.1950450739852"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "e403b" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/613076" ; + gpml:graphId "d284e" ; + gpml:groupRef "e6623" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "GFER deficiency" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "COQ3" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33272"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fdf22" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1368.9216899044666"^^xsd:double ; - gpml:y "984.2102425875993"^^xsd:double . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q9NZJ6" ; + gpml:zorder "33201"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "102.54536201482063"^^xsd:double ; - gpml:centerY "607.7731092436968"^^xsd:double ; + gpml:centerX "1746.8123307102749"^^xsd:double ; + gpml:centerY "207.41164366469553"^^xsd:double ; gpml:color "0" ; - gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; + gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "a49c5" ; - gpml:height "25.0"^^xsd:double ; - gpml:href "" ; + gpml:graphId "b57a0" ; + gpml:height "193.2416534341017"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Phosphate\nmetabolism" ; + gpml:shape "0.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "103.51260504201679"^^xsd:double ; - gpml:zorder "33187"^^xsd:long . + gpml:width "275.2136975471208"^^xsd:double ; + gpml:zorder "33233"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Combined oxidative phosphorylation deficiency type 18" . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "c66" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "c3249" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33408"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Intellectual disability and seizure disorder due to TIMM50 variant" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf , ; + gpml:commentText "Optic atrophy type 11" . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1404.4162578682601"^^xsd:double ; - gpml:centerY "746.1234339367758"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "462.0"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "b4a81" ; + gpml:fontWeight "Bold" ; + gpml:graphId "d3401" ; gpml:height "25.0"^^xsd:double ; - gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Mitochondrial function" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "LONP1" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "223.0"^^xsd:double ; - gpml:zorder "33350"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "P36776" ; + gpml:zorder "33128"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b4329" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1366.381748686096"^^xsd:double ; + gpml:y "609.1759196416448"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e66bb" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "529.4877945969174"^^xsd:double . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "DEE68" . + dcterms:isPartOf ; + gpml:commentText "Combined Oxidative Phosphorylation Defect 6" . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.7563887861609"^^xsd:double ; - gpml:centerY "138.14099751352933"^^xsd:double ; + gpml:centerX "1485.93086306829"^^xsd:double ; + gpml:centerY "489.8440360698489"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -3270,29 +3042,35 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b386b" ; - gpml:hasComment , ; + gpml:graphId "cb759" ; + gpml:hasComment , ; gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/614388" ; + gpml:href "https://omim.org/entry/304700" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "DLP1 deficiency" ; + gpml:textlabel "MTS" ; gpml:valign "Middle" ; gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33101"^^xsd:long . + gpml:zorder "33263"^^xsd:long . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Detachment from mitochondrial outer membrane" . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "c9ff2" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33321"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.434782608696"^^xsd:double ; - gpml:centerY "227.4023354394256"^^xsd:double ; + gpml:centerX "204.0"^^xsd:double ; + gpml:centerY "187.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -3301,88 +3079,80 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "c9c4b" ; + gpml:graphId "ebb1a" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "AGK" ; + gpml:textlabel "MIPEP" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000006530" ; - gpml:zorder "33277"^^xsd:long . + gpml:xrefId "ENSG00000027001" ; + gpml:zorder "33129"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "1664.8804197939114"^^xsd:double ; - gpml:centerY "571.225032185418"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "ab04f" ; - gpml:height "25.00000000000001"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "SLC25A46" ; - gpml:type "GeneProduct" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000164209" ; - gpml:zorder "33235"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f334b" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "-1.0"^^xsd:double ; + gpml:x "519.142053445851"^^xsd:double ; + gpml:y "826.6895218002805"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "d7894" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33250"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf , ; + gpml:commentText "AKA NPL4" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Optic Atrophy 1 and deafness" . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "389.0091791517197"^^xsd:double ; - gpml:centerY "596.7899159663851"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "751.4196591487406"^^xsd:double ; + gpml:centerY "607.7731092436969"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "cf016" ; + gpml:fontStyle "Italic" ; + gpml:fontWeight "Normal" ; + gpml:graphId "a6686" ; gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "TXN2" ; - gpml:type "GeneProduct" ; + gpml:shapeType "None" ; + gpml:textlabel "Calcium\nuptake" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000100348" ; - gpml:zorder "33188"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e144a" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1713.3576068712741"^^xsd:double ; - gpml:y "902.2991134825588"^^xsd:double . + gpml:width "103.51260504201679"^^xsd:double ; + gpml:zorder "33193"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "739.1041486603274"^^xsd:double ; - gpml:centerY "353.1002592912707"^^xsd:double ; + gpml:centerX "642.7066581433176"^^xsd:double ; + gpml:centerY "596.2857142857134"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -3391,187 +3161,145 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "db861" ; + gpml:graphId "f2e14" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PINK1" ; + gpml:textlabel "ATAD3A" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000158828" ; - gpml:zorder "33181"^^xsd:long . + gpml:xrefId "ENSG00000197785" ; + gpml:zorder "33194"^^xsd:long . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "421.13954341560066"^^xsd:double ; - gpml:centerY "211.52051360790466"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "481.2135223365564"^^xsd:double ; + gpml:centerY "609.2647058823529"^^xsd:double ; + gpml:color "0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "dc1ef" ; - gpml:height "11.290407690665027"^^xsd:double ; + gpml:graphId "f47ad" ; + gpml:height "93.48739495798297"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "5.067106844281983"^^xsd:double ; - gpml:shapeType "Mitochondria" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shape "0.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "70.89191721537954"^^xsd:double ; - gpml:zorder "33152"^^xsd:long . + gpml:width "862.5951119000036"^^xsd:double ; + gpml:zorder "33185"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "a8c60" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33299"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c2c2b" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "647.8755259942994"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "362.0"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "294.39993545424556"^^xsd:double ; + gpml:centerY "607.7731092436969"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "e8e0b" ; + gpml:fontStyle "Italic" ; + gpml:fontWeight "Normal" ; + gpml:graphId "db9d1" ; gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "TIMM8A" ; - gpml:type "GeneProduct" ; + gpml:shapeType "None" ; + gpml:textlabel "Redox\nmetabolism" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000126953" ; - gpml:zorder "33136"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "af069" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "687.1587145378032"^^xsd:double . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "de4" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "dbb70" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33206"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "Listed as XNPEP3 in the chapter." . + gpml:width "103.51260504201679"^^xsd:double ; + gpml:zorder "33189"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ab04f" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "f97f6" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939114"^^xsd:double ; - gpml:y "571.225032185418"^^xsd:double . + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "685.5252814498098"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f26f1" ; + dcterms:isPartOf , ; + gpml:graphRef "df8b4" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "568.997214921744"^^xsd:double . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "a369e" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33310"^^xsd:long . + gpml:x "897.6300984528835"^^xsd:double ; + gpml:y "821.842475386779"^^xsd:double . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "616.1181434599155"^^xsd:double ; - gpml:centerY "855.6751054852323"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "357.4293335425416"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "cbf03" ; - gpml:height "113.29113924050671"^^xsd:double ; + gpml:graphId "d98fb" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/614129" ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "PRLTS3" ; gpml:valign "Middle" ; - gpml:width "374.2616033755277"^^xsd:double ; - gpml:zorder "33093"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33295"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d98fb" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "a38b8" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "357.4293335425416"^^xsd:double . + gpml:x "1709.8804197939114"^^xsd:double ; + gpml:y "609.9169978395636"^^xsd:double . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "c7cc7" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33364"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "a57b7" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "897.6300984528837"^^xsd:double ; + gpml:y "754.0225035161747"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "535.5"^^xsd:double ; - gpml:centerY "436.363894811656"^^xsd:double ; + gpml:centerX "383.8751080380295"^^xsd:double ; + gpml:centerY "307.3569576490926"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -3580,261 +3308,208 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "c7a28" ; + gpml:graphId "cbac6" ; gpml:height "25.0"^^xsd:double ; gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "None" ; - gpml:textlabel "Motility" ; + gpml:textlabel "Fusion" ; gpml:valign "Middle" ; gpml:width "83.0"^^xsd:double ; - gpml:zorder "33150"^^xsd:long . + gpml:zorder "33173"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "739.1041486603274"^^xsd:double ; - gpml:centerY "403.10025929127073"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "d6102" ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "SACS?" ; - gpml:type "Protein" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q9NZJ4" ; - gpml:zorder "33183"^^xsd:long . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Not part of OMIM, only gene ID (https://omim.org/entry/608112)" . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "843.9280625100845"^^xsd:double ; - gpml:centerY "606.7899159663857"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "563.3987721734616"^^xsd:double ; + gpml:centerY "232.3205397172616"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "a58e0" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "be3d7" ; + gpml:height "8.598352231477302"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "MICU1" ; - gpml:type "GeneProduct" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "4.781866897858804"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000107745" ; - gpml:zorder "33192"^^xsd:long . + gpml:width "32.82927389901314"^^xsd:double ; + gpml:zorder "33161"^^xsd:long . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "dd30c" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33224"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e3b62" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "cdeb9" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "316.9820898344288"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Alternative name for Mitochondrial epileptic encephalopathy according to IEMBase" . + gpml:x "1424.4576291937838"^^xsd:double ; + gpml:y "781.4400705850414"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "212.0"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1820.7563887861609"^^xsd:double ; + gpml:centerY "423.1748106196871"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "f9d2f" ; + gpml:fontWeight "Normal" ; + gpml:graphId "f4049" ; + gpml:hasComment ; gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/617675" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "PAM16" ; - gpml:type "GeneProduct" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "MMYAT" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000217930" ; - gpml:zorder "33130"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ec753" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "611.9690576652604"^^xsd:double ; - gpml:y "748.2383966244734"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "eee98" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "613.3755274261604"^^xsd:double ; - gpml:y "773.7130801687764"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e8d9d" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "852.6300984528835"^^xsd:double ; - gpml:y "857.3171589310828"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ef087" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "250.59712230215825"^^xsd:double . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33252"^^xsd:long . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "fae0a" ; - gpml:hasPoint , ; + gpml:graphId "c5888" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33296"^^xsd:long . + gpml:zorder "33253"^^xsd:long . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia type 1" . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "eca30" ; - gpml:hasPoint , ; - gpml:lineStyle "Solid" ; + gpml:graphId "d6781" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33089"^^xsd:long . + gpml:zorder "33240"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "514.9881707483606"^^xsd:double ; - gpml:centerY "607.7731092436969"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "332.13954341560066"^^xsd:double ; + gpml:centerY "244.52051360790466"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; + gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "ba52c" ; - gpml:height "25.0"^^xsd:double ; - gpml:href "" ; + gpml:graphId "de59e" ; + gpml:height "11.290407690665027"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Contact site and\ncristae organization" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "4.726844444519893"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "103.51260504201679"^^xsd:double ; - gpml:zorder "33191"^^xsd:long . + gpml:width "70.89191721537954"^^xsd:double ; + gpml:zorder "33155"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "c3807" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33327"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e8d9d" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "897.6300984528835"^^xsd:double ; + gpml:y "869.8171589310828"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f5f9b" ; + dcterms:isPartOf , ; + gpml:graphRef "b817d" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.358515130155"^^xsd:double ; - gpml:y "571.2250321854178"^^xsd:double . + gpml:x "1765.6982492512773"^^xsd:double ; + gpml:y "454.5337471041773"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c3635" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "ae348" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "900.4401070576835"^^xsd:double ; - gpml:y "978.2101004153355"^^xsd:double . + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "471.4014882383834"^^xsd:double . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.7563887861606"^^xsd:double ; - gpml:centerY "524.4664808528587"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "187.0"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "f5a0b" ; - gpml:hasComment , ; + gpml:fontWeight "Bold" ; + gpml:graphId "e46dc" ; gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/258501" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MGA3" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "AFG3L2" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33244"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000141385" ; + gpml:zorder "33105"^^xsd:long . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Axonal Charcot-Marie-Tooth disease type 2A2B" . + dcterms:isPartOf ; + gpml:commentText "Selenoprotein Z deficiency" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "496.0650935200687"^^xsd:double ; - gpml:centerY "972.8897084809887"^^xsd:double ; + gpml:centerX "960.9172941350464"^^xsd:double ; + gpml:centerY "965.7101004153355"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -3843,26 +3518,26 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "cf59e" ; - gpml:groupRef "c3ba6" ; - gpml:height "25.000000000000075"^^xsd:double ; + gpml:graphId "df833" ; + gpml:groupRef "b7d9d" ; + gpml:height "24.99999999999994"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "UFD1" ; + gpml:textlabel "UBXN1" ; gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "96.95437415472591"^^xsd:double ; + gpml:width "96.95437415472593"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q92890" ; - gpml:zorder "33393"^^xsd:long . + gpml:xrefId "Q04323" ; + gpml:zorder "33400"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1479.5157687286671"^^xsd:double ; - gpml:centerY "825.4023347359844"^^xsd:double ; + gpml:centerX "1819.6252877585634"^^xsd:double ; + gpml:centerY "791.6893561969504"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -3871,24 +3546,75 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "d1ee0" ; - gpml:hasComment ; + gpml:graphId "c3fb1" ; + gpml:hasComment ; gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/616811" ; + gpml:href "https://omim.org/entry/270550" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "COXPD29" ; + gpml:textlabel "Sacsin deficiency" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33388"^^xsd:long . + gpml:zorder "33309"^^xsd:long . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "de4" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "f91b7" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33087"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c7359" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1431.8799177780106"^^xsd:double ; + gpml:y "232.61151079136692"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e425a" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "825.4223602484481"^^xsd:double ; + gpml:y "978.5650347095368"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "b7776" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33307"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c3fb1" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1764.5671482236799"^^xsd:double ; + gpml:y "791.6893561969504"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "412.48769923041465"^^xsd:double ; - gpml:centerY "751.3577756684059"^^xsd:double ; + gpml:centerX "710.42194092827"^^xsd:double ; + gpml:centerY "844.1912798874816"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -3897,105 +3623,178 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "ef8ee" ; - gpml:groupRef "e6623" ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "b723b" ; + gpml:hasComment ; + gpml:height "35.00351617440231"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "biotin" ; + gpml:textlabel "pyrroline-5-\ncarboxylate" ; gpml:type "Metabolite" ; gpml:valign "Middle" ; - gpml:width "50.44605183845441"^^xsd:double ; + gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:15956" ; - gpml:zorder "33202"^^xsd:long . + gpml:xrefId "CHEBI:15893" ; + gpml:zorder "33205"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1484.610108351309"^^xsd:double ; - gpml:centerY "529.3077742307314"^^xsd:double ; + gpml:centerX "1485.93086306829"^^xsd:double ; + gpml:centerY "308.637801495481"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "fc6c0" ; + gpml:hasComment , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/213200" ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "SCAR2" ; + gpml:valign "Middle" ; + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33283"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "383.3794295592049"^^xsd:double ; + gpml:centerY "339.2713915298186"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "ad43f" ; - gpml:hasComment , , ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/617698" ; + gpml:fontWeight "Bold" ; + gpml:graphId "e3f0f" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MGCA9" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "MFN2" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33269"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000116688" ; + gpml:zorder "33170"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1488.7366184639732"^^xsd:double ; - gpml:centerY "276.78714512221137"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "1664.8804197939116"^^xsd:double ; + gpml:centerY "184.49172404302004"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "a7cb6" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/619405" ; + gpml:fontWeight "Bold" ; + gpml:graphId "fbdf0" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "SCAR30" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "GDAP1L1" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33339"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "HGNC" ; + gpml:xrefId "GDAP1L1" ; + gpml:zorder "33225"^^xsd:long . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "a10a8" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33078"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "145.0255102040819"^^xsd:double ; - gpml:centerY "741.9230557233752"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "535.5"^^xsd:double ; + gpml:centerY "356.0"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "ade9c" ; + gpml:fontWeight "Bold" ; + gpml:graphId "df966" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "COQ3" ; - gpml:type "Protein" ; + gpml:textlabel "GDAP1L1" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q9NZJ6" ; - gpml:zorder "33116"^^xsd:long . + gpml:xrefDataSource "HGNC" ; + gpml:xrefId "GDAP1L1" ; + gpml:zorder "33145"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "a6eee" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "737.610630942092"^^xsd:double ; + gpml:y "187.84356093344852"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "e9fdd" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33270"^^xsd:long . - + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "c66" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "c84b7" ; + gpml:hasAnchor ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33399"^^xsd:long . + + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "245.24083462376404"^^xsd:double ; + gpml:centerX "1820.4166546650385"^^xsd:double ; + gpml:centerY "700.258532672566"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -4004,72 +3803,72 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c43b2" ; - gpml:hasComment ; + gpml:graphId "e838c" ; + gpml:hasComment ; gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/614691" ; + gpml:href "https://omim.org/entry/605909" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "Cataract 38 (AR)" ; + gpml:textlabel "PARK6" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33279"^^xsd:long . + gpml:zorder "33326"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ef087" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "250.59712230215825"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Dilated cardiomyopathy with ataxia" . + dcterms:isPartOf , ; + gpml:graphRef "a14a8" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "-1.0"^^xsd:double ; + gpml:x "145.0255102040819"^^xsd:double ; + gpml:y "938.7724306688418"^^xsd:double . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "151.5"^^xsd:double ; - gpml:centerY "145.0"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1664.8804197939107"^^xsd:double ; + gpml:centerY "1041.8532060575558"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; - gpml:fontWeight "Normal" ; - gpml:graphId "b7b6a" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "f8efc" ; + gpml:hasComment , ; gpml:height "25.0"^^xsd:double ; - gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Protein import, sorting\nand processing" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "RTN4IP1" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "223.0"^^xsd:double ; - gpml:zorder "33102"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q8WWV3" ; + gpml:zorder "33376"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d73d6" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.5"^^xsd:double ; - gpml:x "84.89795918367331"^^xsd:double ; - gpml:y "694.6904690146097"^^xsd:double . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "ea36a" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33372"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.4347826086961"^^xsd:double ; - gpml:centerY "568.997214921744"^^xsd:double ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "237.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -4078,57 +3877,127 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "f26f1" ; + gpml:graphId "d7f52" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "HSPD1" ; + gpml:textlabel "AGK" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000144381" ; - gpml:zorder "33303"^^xsd:long . + gpml:xrefId "ENSG00000006530" ; + gpml:zorder "33119"^^xsd:long . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "encephalopathy due to defective mitochondrondrial and peroxisomal fission type 2" . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "fcaf6" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1430.8727235334063"^^xsd:double ; + gpml:y "138.1874846657468"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Group ; + dcterms:isPartOf ; + gpml:graphId "ce6bd" ; + gpml:groupId "ce6b1" ; + gpml:style "Group" . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.8804197939114"^^xsd:double ; - gpml:centerY "699.4311945430684"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1820.7563887861606"^^xsd:double ; + gpml:centerY "391.33417764017156"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "b3716" ; + gpml:fontWeight "Normal" ; + gpml:graphId "c2204" ; + gpml:hasComment ; gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/617087" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "PINK1" ; - gpml:type "GeneProduct" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "CMT2A2B" ; + gpml:valign "Middle" ; + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33248"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "cd98a" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "271.0"^^xsd:double ; + gpml:y "308.8842592592593"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "d73d6" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "205.1530612244897"^^xsd:double ; + gpml:y "688.4404690146097"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e2ca2" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "138.1874846657468"^^xsd:double . + + + rdf:type gpml:shape ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "541.3144097852679"^^xsd:double ; + gpml:centerY "213.34328901713468"^^xsd:double ; + gpml:color "c0c0c0" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "ecb58" ; + gpml:height "6.029498823428681"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "2.8824894657395204"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000158828" ; - gpml:zorder "33325"^^xsd:long . + gpml:width "29.521029109000413"^^xsd:double ; + gpml:zorder "33160"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ec753" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "611.9690576652604"^^xsd:double ; + gpml:y "748.2383966244734"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1323.9216899044666"^^xsd:double ; - gpml:centerY "930.8140161725058"^^xsd:double ; + gpml:centerX "383.3794295592049"^^xsd:double ; + gpml:centerY "414.2713915298186"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -4137,50 +4006,25 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "b889b" ; + gpml:graphId "f7654" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "ATAD3A" ; - gpml:type "GeneProduct" ; + gpml:textlabel "OPA3?" ; + gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000197785" ; - gpml:zorder "33359"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a7cb6" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1433.6784789290896"^^xsd:double ; - gpml:y "276.78714512221137"^^xsd:double . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "dca9b" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33210"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Dynamin-like protein 1 deficiency" . + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q9H6K4" ; + gpml:zorder "33111"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "1664.8804197939116"^^xsd:double ; - gpml:centerY "471.4014882383834"^^xsd:double ; + gpml:centerY "524.4664808528587"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -4189,36 +4033,25 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "ae348" ; - gpml:height "25.00000000000001"^^xsd:double ; + gpml:graphId "fb446" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "OPA1" ; - gpml:type "GeneProduct" ; + gpml:textlabel "OPA3" ; + gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000198836" ; - gpml:zorder "33238"^^xsd:long . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "a47fe" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33214"^^xsd:long . + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q9H6K4" ; + gpml:zorder "33243"^^xsd:long . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1405.2830188679245"^^xsd:double ; - gpml:centerY "683.5849056603773"^^xsd:double ; + gpml:centerX "784.6924237331534"^^xsd:double ; + gpml:centerY "308.69843384871467"^^xsd:double ; gpml:color "0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; @@ -4226,34 +4059,23 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "be73d" ; - gpml:height "94.33962264150935"^^xsd:double ; + gpml:graphId "a92b8" ; + gpml:height "377.1401693396076"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "288.6792452830189"^^xsd:double ; - gpml:zorder "33369"^^xsd:long . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "d6dae" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33216"^^xsd:long . + gpml:width "253.8558932744337"^^xsd:double ; + gpml:zorder "33176"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "308.63780149548097"^^xsd:double ; + gpml:centerX "1079.3618602992344"^^xsd:double ; + gpml:centerY "908.3476230441051"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -4262,25 +4084,45 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "d9854" ; + gpml:graphId "f9082" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PMPCA" ; + gpml:textlabel "PINK1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000165688" ; - gpml:zorder "33282"^^xsd:long . + gpml:xrefId "ENSG00000158828" ; + gpml:zorder "33404"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b5838" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1431.8799177780106"^^xsd:double ; + gpml:y "453.3123102231409"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "ab204" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33232"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1323.9216899044666"^^xsd:double ; - gpml:centerY "1043.2050103060092"^^xsd:double ; + gpml:centerX "1321.3817486860962"^^xsd:double ; + gpml:centerY "687.1587145378032"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -4289,214 +4131,168 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "fa9c3" ; + gpml:graphId "af069" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MICU1" ; + gpml:textlabel "TRAK1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000107745" ; - gpml:zorder "33375"^^xsd:long . + gpml:xrefId "ENSG00000182606" ; + gpml:zorder "33368"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "fe53f" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33229"^^xsd:long . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.4347826086959"^^xsd:double ; - gpml:centerY "105.91738408516973"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1162.1162804268006"^^xsd:double ; + gpml:centerY "171.05660377358518"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "efb00" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "e4858" ; + gpml:hasComment , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/300816" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "AFG3L2" ; - gpml:type "GeneProduct" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "COXPD6" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000141385" ; - gpml:zorder "33311"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33357"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a37f0" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "239.2703529690844"^^xsd:double . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Combined oxidative phosphorylation deficiency type 31" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "dab6e" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "439.9308556611927"^^xsd:double ; - gpml:y "1082.8255274754144"^^xsd:double . + dcterms:isPartOf , ; + gpml:graphRef "d73d6" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.5"^^xsd:double ; + gpml:x "84.89795918367331"^^xsd:double ; + gpml:y "694.6904690146097"^^xsd:double . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "ce2e6" ; - gpml:hasPoint , ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33090"^^xsd:long . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Childhood-onset optic atrophy type 1" . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d5d0e" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1713.357606871274"^^xsd:double ; - gpml:y "945.2517985611508"^^xsd:double . + + rdf:type gpml:Comment ; + dcterms:isPartOf , ; + gpml:commentText "m-AAA protease AFG3L2 subunit deficiency" . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Group ; + dcterms:isPartOf ; + gpml:graphId "b7b26" ; + gpml:groupId "c3110" ; + gpml:style "Group" . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1323.9216899044666"^^xsd:double ; - gpml:centerY "875.1861423814798"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1485.93086306829"^^xsd:double ; + gpml:centerY "138.1874846657468"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "b60c6" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "fcaf6" ; + gpml:hasComment , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/617228" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "TXNRD2" ; - gpml:type "GeneProduct" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "COXPD31" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000184470" ; - gpml:zorder "33387"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33289"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c5430" ; + dcterms:isPartOf , ; + gpml:graphRef "e4858" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "807.6300984528837"^^xsd:double ; - gpml:y "789.3389592123767"^^xsd:double . + gpml:x "1107.058140891917"^^xsd:double ; + gpml:y "171.05660377358518"^^xsd:double . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1746.8123307102749"^^xsd:double ; - gpml:centerY "207.41164366469553"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "404.4257992633706"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b57a0" ; - gpml:height "193.2416534341017"^^xsd:double ; + gpml:graphId "dbd7e" ; + gpml:hasComment , , ; + gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/610198" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "" ; + gpml:textlabel "MGCA5" ; gpml:valign "Middle" ; - gpml:width "275.2136975471208"^^xsd:double ; - gpml:zorder "33233"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "a5caa" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33305"^^xsd:long . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33260"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b723b" ; + dcterms:isPartOf , ; + gpml:graphRef "b8bd9" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "665.42194092827"^^xsd:double ; - gpml:y "844.1912798874816"^^xsd:double . + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "552.3651982897275"^^xsd:double . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "C1q-binding protein deficiency" . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "cfbe2" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33264"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "f3b85" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33355"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "ad4a0" ; - gpml:hasPoint , ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33091"^^xsd:long . - - - rdf:type gpml:InfoBox ; - dcterms:isPartOf ; - gpml:centerX "0.0"^^xsd:double ; - gpml:centerY "0.0"^^xsd:double . + dcterms:isPartOf ; + gpml:commentText "Optic atrophy type 10" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.434782608696"^^xsd:double ; - gpml:centerY "504.4961754207037"^^xsd:double ; + gpml:centerX "1664.8804197939114"^^xsd:double ; + gpml:centerY "571.225032185418"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -4505,196 +4301,136 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "a724c" ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "ab04f" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "HSPA9" ; + gpml:textlabel "SLC25A46" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000113013" ; - gpml:zorder "33300"^^xsd:long . + gpml:xrefId "ENSG00000164209" ; + gpml:zorder "33235"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "159.0"^^xsd:double ; - gpml:centerY "308.8842592592593"^^xsd:double ; - gpml:color "0" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "cd98a" ; - gpml:height "377.87209302325573"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "" ; - gpml:valign "Middle" ; - gpml:width "224.0"^^xsd:double ; - gpml:zorder "33096"^^xsd:long . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37" . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "481.2135223365564"^^xsd:double ; - gpml:centerY "609.2647058823529"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1819.6252877585632"^^xsd:double ; + gpml:centerY "994.1173570009523"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "f47ad" ; - gpml:height "93.48739495798297"^^xsd:double ; + gpml:graphId "eacc7" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/612989" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "" ; - gpml:valign "Middle" ; - gpml:width "862.5951119000036"^^xsd:double ; - gpml:zorder "33185"^^xsd:long . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "de4" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "fa57c" ; - gpml:hasAnchor ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33084"^^xsd:long . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf , ; - gpml:align "Center" ; - gpml:centerX "326.9698548261071"^^xsd:double ; - gpml:centerY "961.4909882215868"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "d7de2" ; - gpml:groupRef "c3110" ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "UFD1" ; - gpml:type "Protein" ; + gpml:textlabel "OPA7" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q92890" ; - gpml:zorder "33114"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33363"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "294.39993545424556"^^xsd:double ; - gpml:centerY "607.7731092436969"^^xsd:double ; + gpml:centerX "862.517985611511"^^xsd:double ; + gpml:centerY "308.56115107913695"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; + gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "db9d1" ; + gpml:graphId "f6126" ; gpml:height "25.0"^^xsd:double ; gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "None" ; - gpml:textlabel "Redox\nmetabolism" ; + gpml:textlabel "Degradation" ; gpml:valign "Middle" ; - gpml:width "103.51260504201679"^^xsd:double ; - gpml:zorder "33189"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Dystonia Deafness Syndrome" . + gpml:width "90.0"^^xsd:double ; + gpml:zorder "33099"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "bbece" ; + dcterms:isPartOf , ; + gpml:graphRef "c8fb8" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "489.8440360698489"^^xsd:double . + gpml:y "453.31231022314086"^^xsd:double . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Autosomal recessive spastic ataxia of Charlevoix-Saguenay" . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b3716" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1709.8804197939114"^^xsd:double ; + gpml:y "699.4311945430684"^^xsd:double . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "357.4293335425416"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "960.9172941350465"^^xsd:double ; + gpml:centerY "940.7101004153357"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "d98fb" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/614129" ; + gpml:fontWeight "Bold" ; + gpml:graphId "e0b85" ; + gpml:groupRef "b7d9d" ; + gpml:height "24.999999999999968"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "PRLTS3" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "VCP" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33295"^^xsd:long . + gpml:width "96.95437415472591"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "P55072" ; + gpml:zorder "33199"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "e3605" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33293"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e403b" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "456.9459554805978"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "383.3794295592049"^^xsd:double ; - gpml:centerY "389.2713915298186"^^xsd:double ; + gpml:centerX "588.1440787285369"^^xsd:double ; + gpml:centerY "688.4404690146097"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -4703,58 +4439,71 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "de3bb" ; - gpml:height "25.00000000000001"^^xsd:double ; + gpml:graphId "b297a" ; + gpml:hasComment , ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "OPA1" ; - gpml:type "GeneProduct" ; + gpml:textlabel "USP9X" ; + gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000198836" ; - gpml:zorder "33171"^^xsd:long . + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q93008" ; + gpml:zorder "33198"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c2ef6" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1765.6982492512773"^^xsd:double ; + gpml:y "201.127382957748"^^xsd:double . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "563.3987721734616"^^xsd:double ; - gpml:centerY "232.3205397172616"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "204.0"^^xsd:double ; + gpml:centerY "387.0"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "be3d7" ; - gpml:height "8.598352231477302"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "bb420" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "4.781866897858804"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "TIMM50" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "32.82927389901314"^^xsd:double ; - gpml:zorder "33161"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000105197" ; + gpml:zorder "33137"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b889b" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "dab6e" ; + gpml:relX "0.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1368.9216899044666"^^xsd:double ; - gpml:y "930.8140161725058"^^xsd:double . + gpml:x "439.9308556611927"^^xsd:double ; + gpml:y "1082.8255274754144"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1479.5157687286671"^^xsd:double ; - gpml:centerY "875.1861423814798"^^xsd:double ; + gpml:centerX "1820.7563887861609"^^xsd:double ; + gpml:centerY "201.127382957748"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -4763,24 +4512,24 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "e7cb3" ; - gpml:hasComment , ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/617825" ; + gpml:graphId "c2ef6" ; + gpml:hasComment ; + gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/214400" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "GCCD5" ; + gpml:textlabel "CMT4A" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33389"^^xsd:long . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33227"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.7563887861609"^^xsd:double ; - gpml:centerY "423.1748106196871"^^xsd:double ; + gpml:centerX "1162.6823181626498"^^xsd:double ; + gpml:centerY "281.4339622641506"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -4789,200 +4538,203 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "f4049" ; - gpml:hasComment ; - gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/617675" ; + gpml:graphId "b3895" ; + gpml:hasComment , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/617713" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MMYAT" ; + gpml:textlabel "COXPD33" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33252"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33366"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:biopaxRef "f20" ; + gpml:centerX "301.31932773109236"^^xsd:double ; + gpml:centerY "688.4404690146097"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "e1971" ; + gpml:hasComment , ; + gpml:hasPublicationXref ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "RTN4IP1" ; + gpml:type "Protein" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q8WWV3" ; + gpml:zorder "33196"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.8804197939114"^^xsd:double ; - gpml:centerY "747.8124895070985"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "1030.0600480384967"^^xsd:double ; + gpml:centerY "1082.8255274754147"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "fa733" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "a5497" ; + gpml:hasComment ; + gpml:height "25.000000000000075"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PRKN" ; - gpml:type "GeneProduct" ; + gpml:textlabel "MARCHF5" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000185345" ; - gpml:zorder "33322"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ac59e" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "755.42194092827"^^xsd:double ; - gpml:y "773.7130801687765"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "X-linked Mitochondrial Myopathy" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b386b" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.6982492512773"^^xsd:double ; - gpml:y "138.14099751352933"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a89d1" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "100.02551020408191"^^xsd:double ; - gpml:y "785.3061224489807"^^xsd:double . - - - rdf:type gpml:PublicationXref ; - dcterms:isPartOf ; - gpml:database "Pubmed" ; - gpml:id "38199007" . + gpml:width "96.95437415472591"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q9NX47" ; + gpml:zorder "33417"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "332.13954341560066"^^xsd:double ; - gpml:centerY "244.52051360790466"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "1479.5157687286671"^^xsd:double ; + gpml:centerY "1043.2050103060094"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "de59e" ; - gpml:height "11.290407690665027"^^xsd:double ; + gpml:graphId "e5e91" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/615673" ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "4.726844444519893"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "MPXPS" ; gpml:valign "Middle" ; - gpml:width "70.89191721537954"^^xsd:double ; - gpml:zorder "33155"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33378"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fc6c0" ; + dcterms:isPartOf , ; + gpml:graphRef "efc96" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1430.8727235334063"^^xsd:double ; - gpml:y "308.637801495481"^^xsd:double . + gpml:x "1764.5671482236799"^^xsd:double ; + gpml:y "945.2517985611506"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e1971" ; + dcterms:isPartOf , ; + gpml:graphRef "c5430" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "256.31932773109236"^^xsd:double ; - gpml:y "688.4404690146097"^^xsd:double . + gpml:x "807.6300984528837"^^xsd:double ; + gpml:y "789.3389592123767"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "412.0"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "373.5"^^xsd:double ; + gpml:centerY "145.0"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "e2c90" ; + gpml:fontStyle "Italic" ; + gpml:fontWeight "Normal" ; + gpml:graphId "fecf9" ; gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "TIMMDC1" ; - gpml:type "GeneProduct" ; + gpml:shapeType "None" ; + gpml:textlabel "Filamentous\nmitochondria" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000113845" ; - gpml:zorder "33138"^^xsd:long . + gpml:width "141.0"^^xsd:double ; + gpml:zorder "33142"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e730f" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.6982492512773"^^xsd:double ; - gpml:y "280.5751060406617"^^xsd:double . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "early infantile epileptic encephalopathy 68" . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "ffbfa" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33209"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1479.5157687286671"^^xsd:double ; - gpml:centerY "930.814016172506"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "417.99306480632305"^^xsd:double ; + gpml:centerY "1039.522162261105"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "ccfcb" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/617183" ; + gpml:fontWeight "Bold" ; + gpml:graphId "cc400" ; + gpml:height "24.999999999999968"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "HAYOS" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "VCP" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33360"^^xsd:long . + gpml:width "96.95437415472591"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "P55072" ; + gpml:zorder "33411"^^xsd:long . - - rdf:type gpml:Anchor ; - dcterms:isPartOf , ; - gpml:graphId "cacb6" ; - gpml:position "0.7473908118250779"^^xsd:double ; - gpml:shape "None" . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c3635" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "900.4401070576835"^^xsd:double ; + gpml:y "978.2101004153355"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1819.6252877585634"^^xsd:double ; - gpml:centerY "791.6893561969504"^^xsd:double ; + gpml:centerX "1820.7563887861609"^^xsd:double ; + gpml:centerY "280.5751060406617"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -4991,33 +4743,35 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c3fb1" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/270550" ; + gpml:graphId "e730f" ; + gpml:hasComment ; + gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/616636" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "Sacsin deficiency" ; + gpml:textlabel "IMD44" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33309"^^xsd:long . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33231"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c9c4b" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "227.4023354394256"^^xsd:double . + + rdf:type gpml:PublicationXref ; + dcterms:isPartOf ; + gpml:database "Pubmed" ; + gpml:id "38199007" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Infantile sudden cardiac failure" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "529.4877945969174"^^xsd:double ; + gpml:centerX "1664.880419793911"^^xsd:double ; + gpml:centerY "994.1173570009523"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5026,30 +4780,25 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "e66bb" ; + gpml:graphId "dd58f" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "TIMM50" ; - gpml:type "GeneProduct" ; + gpml:textlabel "TMEM126A" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000105197" ; - gpml:zorder "33268"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Sideoblastic anemia type 4" . + gpml:width "96.95437415472591"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q9H061" ; + gpml:zorder "33362"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "535.5"^^xsd:double ; - gpml:centerY "381.0"^^xsd:double ; + gpml:centerY "461.363894811656"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5058,85 +4807,60 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "ea5e7" ; + gpml:graphId "a096e" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MFF" ; + gpml:textlabel "TRAK1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000168958" ; - gpml:zorder "33146"^^xsd:long . + gpml:xrefId "ENSG00000182606" ; + gpml:zorder "33149"^^xsd:long . + + + rdf:type gpml:shape ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "523.2672441270403"^^xsd:double ; + gpml:centerY "189.89952101964715"^^xsd:double ; + gpml:color "c0c0c0" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "d5e7a" ; + gpml:height "8.598352231477302"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "3.781398971837235"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; + gpml:valign "Middle" ; + gpml:width "32.82927389901314"^^xsd:double ; + gpml:zorder "33159"^^xsd:long . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "c9ff2" ; - gpml:hasPoint , ; + gpml:graphId "e4bcd" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33321"^^xsd:long . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:biopaxRef "de4" ; - gpml:centerX "586.0302390998597"^^xsd:double ; - gpml:centerY "810.4360056258801"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "b6e2a" ; - gpml:hasComment ; - gpml:hasPublicationXref ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "PYCR1" ; - gpml:type "Protein" ; - gpml:valign "Middle" ; - gpml:width "63.1293952180022"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P32322" ; - gpml:zorder "33218"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "bb24d" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1417.1794560820072"^^xsd:double ; - gpml:y "567.6411494489914"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Spastic paraplegia type7" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "MAGMAS deficiency" . + gpml:zorder "33242"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "1664.8804197939116"^^xsd:double ; - gpml:centerY "372.9654603733909"^^xsd:double ; + gpml:centerY "422.7678102472463"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5145,53 +4869,58 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "f1e44" ; + gpml:graphId "f9805" ; gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MFN2" ; - gpml:type "GeneProduct" ; + gpml:textlabel "MSTO1" ; + gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000116688" ; - gpml:zorder "33246"^^xsd:long . + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q9BUK6" ; + gpml:zorder "33251"^^xsd:long . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "c66" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "fb6d5" ; - gpml:hasComment ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33407"^^xsd:long . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Early-onset Parkinson disease type 6" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ad60d" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "212.40233543942497"^^xsd:double . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "3-methylglutaconice aciduria type 5" . + dcterms:isPartOf ; + gpml:commentText "Multiple mitochondrial dysfunctions syndrome 6" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ade9c" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "cb759" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "190.0255102040819"^^xsd:double ; - gpml:y "741.9230557233752"^^xsd:double . + gpml:x "1430.8727235334063"^^xsd:double ; + gpml:y "489.8440360698489"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "287.0"^^xsd:double ; + gpml:centerY "437.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5200,171 +4929,150 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "c7d23" ; + gpml:graphId "ad67b" ; + gpml:hasComment ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PMPCB" ; + gpml:textlabel "XPNPEP3 " ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000105819" ; - gpml:zorder "33133"^^xsd:long . + gpml:xrefId "ENSG00000196236" ; + gpml:zorder "33139"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:biopaxRef "de4" ; - gpml:centerX "852.6300984528835"^^xsd:double ; - gpml:centerY "869.8171589310828"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "e8d9d" ; - gpml:hasComment ; - gpml:hasPublicationXref ; - gpml:height "25.0"^^xsd:double ; + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "c66" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "f1b88" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "α-Ketoglutarate" ; - gpml:type "Metabolite" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:30915" ; - gpml:zorder "33215"^^xsd:long . + gpml:zorder "33074"^^xsd:long . - - rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "Found in transgenic mouse model" . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "df8b4" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "852.6300984528835"^^xsd:double ; + gpml:y "834.342475386779"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "496.0650935200687"^^xsd:double ; - gpml:centerY "997.8897084809888"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1664.8804197939116"^^xsd:double ; + gpml:centerY "280.5751060406617"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "bdcf2" ; - gpml:groupRef "c3ba6" ; - gpml:hasComment ; - gpml:height "25.000000000000075"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "a7f11" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "NPLOC4" ; - gpml:type "Protein" ; - gpml:valign "Middle" ; - gpml:width "96.95437415472591"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q8TAT6" ; - gpml:zorder "33394"^^xsd:long . + gpml:textlabel "STAT2" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000170581" ; + gpml:zorder "33230"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "534.6326707000865"^^xsd:double ; - gpml:centerY "369.30056179775283"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "646.4401877525798"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "d1dbc" ; - gpml:height "111.13094209161613"^^xsd:double ; + gpml:graphId "ed9d8" ; + gpml:hasComment ; + gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/617248" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "" ; + gpml:textlabel "MGCA8" ; gpml:valign "Middle" ; - gpml:width "115.81676750216083"^^xsd:double ; - gpml:zorder "33095"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "cc4e5" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "145.0255102040819"^^xsd:double ; - gpml:y "884.4801038295545"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Mitochondria processing peptidase beta deficiency" . - - - rdf:type gpml:Group ; - dcterms:isPartOf ; - gpml:graphId "ce6bd" ; - gpml:groupId "ce6b1" ; - gpml:style "Group" . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33320"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "f275c" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; + gpml:graphId "ad762" ; + gpml:hasComment ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33092"^^xsd:long . + gpml:zorder "33079"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c8d84" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1368.9216899044666"^^xsd:double ; + gpml:y "825.4023347359844"^^xsd:double . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "1820.7563887861606"^^xsd:double ; - gpml:centerY "391.33417764017156"^^xsd:double ; + gpml:centerX "412.48769923041465"^^xsd:double ; + gpml:centerY "751.3577756684059"^^xsd:double ; gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c2204" ; - gpml:hasComment ; + gpml:graphId "ef8ee" ; + gpml:groupRef "e6623" ; gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/617087" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "CMT2A2B" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "biotin" ; + gpml:type "Metabolite" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33248"^^xsd:long . + gpml:width "50.44605183845441"^^xsd:double ; + gpml:xrefDataSource "ChEBI" ; + gpml:xrefId "CHEBI:15956" ; + gpml:zorder "33202"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "960.9172941350466"^^xsd:double ; - gpml:centerY "1015.7101004153354"^^xsd:double ; + gpml:centerX "772.4223602484482"^^xsd:double ; + gpml:centerY "966.0650347095368"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5373,26 +5081,55 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "ffd5e" ; - gpml:groupRef "b7d9d" ; - gpml:height "24.99999999999994"^^xsd:double ; + gpml:graphId "c7909" ; + gpml:groupRef "fb48e" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "p47" ; + gpml:textlabel "UBXN1" ; gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "96.95437415472593"^^xsd:double ; + gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P08567" ; - gpml:zorder "33402"^^xsd:long . + gpml:xrefId "Q04323" ; + gpml:zorder "33103"^^xsd:long . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "f20" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "d1326" ; + gpml:hasAnchor ; + gpml:hasComment ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33086"^^xsd:long . + + + rdf:type gpml:Group ; + dcterms:isPartOf ; + gpml:graphId "a33c3" ; + gpml:groupId "a7bc4" ; + gpml:style "Group" . + + + rdf:type gpml:Anchor ; + dcterms:isPartOf , ; + gpml:graphId "eee98" ; + gpml:position "0.5138869601444247"^^xsd:double ; + gpml:shape "None" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "250.59712230215828"^^xsd:double ; + gpml:centerX "1004.4347826086961"^^xsd:double ; + gpml:centerY "568.997214921744"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5401,36 +5138,117 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "ef087" ; + gpml:graphId "f26f1" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PITRM1" ; + gpml:textlabel "HSPD1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000107959" ; - gpml:zorder "33336"^^xsd:long . + gpml:xrefId "ENSG00000144381" ; + gpml:zorder "33303"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "389.00917915171965"^^xsd:double ; + gpml:centerY "621.789915966385"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "e4516" ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "TXNRD2" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000184470" ; + gpml:zorder "33190"^^xsd:long . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "158.5"^^xsd:double ; + gpml:centerY "91.03543647363864"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "14.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "f9d89" ; + gpml:height "25.0"^^xsd:double ; + gpml:href "" ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "None" ; + gpml:textlabel "Mitochondrial biogenesis" ; + gpml:valign "Middle" ; + gpml:width "223.0"^^xsd:double ; + gpml:zorder "33100"^^xsd:long . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "af333" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33213"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e5e91" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1424.4576291937838"^^xsd:double ; + gpml:y "1043.2050103060094"^^xsd:double . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "dd30c" ; - gpml:hasPoint , ; + gpml:graphId "bff7a" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33224"^^xsd:long . + gpml:zorder "33280"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "fbdf0" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "184.49172404302004"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "642.7066581433176"^^xsd:double ; - gpml:centerY "621.2857142857133"^^xsd:double ; + gpml:centerX "204.0"^^xsd:double ; + gpml:centerY "262.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5439,72 +5257,59 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "c9cb2" ; + gpml:graphId "e6c62" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MICOS13" ; + gpml:textlabel "PMPCA" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000174917" ; - gpml:zorder "33195"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Hypomyelinating leukodystrophy type 4 (recessive)" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d9dab" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "909.14529676699"^^xsd:double ; - gpml:y "1082.8255274754147"^^xsd:double . + gpml:xrefId "ENSG00000165688" ; + gpml:zorder "33132"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "541.3144097852679"^^xsd:double ; - gpml:centerY "213.34328901713468"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "752.8414001728613"^^xsd:double ; + gpml:centerY "240.76923076923075"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "ecb58" ; - gpml:height "6.029498823428681"^^xsd:double ; + gpml:graphId "c160e" ; + gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "2.8824894657395204"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "None" ; + gpml:textlabel "+" ; gpml:valign "Middle" ; - gpml:width "29.521029109000413"^^xsd:double ; - gpml:zorder "33160"^^xsd:long . + gpml:width "33.76404494382022"^^xsd:double ; + gpml:zorder "33098"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ac59e" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.5"^^xsd:double ; - gpml:x "755.42194092827"^^xsd:double ; - gpml:y "782.4639592123771"^^xsd:double . + dcterms:isPartOf , ; + gpml:graphRef "ce748" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "-1.0"^^xsd:double ; + gpml:x "649.1596343178618"^^xsd:double ; + gpml:y "797.93600562588"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1323.9216899044666"^^xsd:double ; - gpml:centerY "984.2102425875993"^^xsd:double ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "362.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5513,55 +5318,34 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "fdf22" ; + gpml:graphId "f7486" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MICOS13" ; + gpml:textlabel "GFER" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000174917" ; - gpml:zorder "33381"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "aka 2-oxoglutaric acid" . + gpml:xrefDataSource "HGNC" ; + gpml:xrefId "GFER" ; + gpml:zorder "33124"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b60c6" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "b4112" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1368.9216899044666"^^xsd:double ; - gpml:y "875.1861423814798"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Not in Figure, but added in Table 46.35" . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "bdc4e" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33237"^^xsd:long . + gpml:x "1765.6982492512773"^^xsd:double ; + gpml:y "239.2703529690844"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "138.1874846657468"^^xsd:double ; + gpml:centerY "308.63780149548097"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5570,153 +5354,199 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "e2ca2" ; + gpml:graphId "d9854" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MIPEP" ; + gpml:textlabel "PMPCA" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000027001" ; - gpml:zorder "33288"^^xsd:long . + gpml:xrefId "ENSG00000165688" ; + gpml:zorder "33282"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "efa26" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "c7697" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "564.142053445851"^^xsd:double ; - gpml:y "773.7130801687763"^^xsd:double . + gpml:x "1765.698249251277"^^xsd:double ; + gpml:y "485.2132153464223"^^xsd:double . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "784.6924237331534"^^xsd:double ; - gpml:centerY "308.69843384871467"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1005.1320754716982"^^xsd:double ; + gpml:centerY "281.4339622641506"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "a92b8" ; - gpml:height "377.1401693396076"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "d1da1" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "C1QBP" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "253.8558932744337"^^xsd:double ; - gpml:zorder "33176"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000108561" ; + gpml:zorder "33365"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "c66" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "a9673" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33413"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f334b" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "564.142053445851"^^xsd:double ; + gpml:y "844.1912798874816"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "da100" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "435.58790644270573"^^xsd:double ; + gpml:y "972.8897084809889"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "dae41" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "612.9282456381248"^^xsd:double ; + gpml:y "972.8182978203168"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e9842" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1764.5671482236799"^^xsd:double ; + gpml:y "863.9080949138895"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "be7eb" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "355.9565344663881"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "a8c60" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33299"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c43b2" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "245.24083462376404"^^xsd:double . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "377.13954341560066"^^xsd:double ; - gpml:centerY "183.52051360790466"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "1485.93086306829"^^xsd:double ; + gpml:centerY "355.95653446638823"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "e8c46" ; - gpml:height "11.290407690665027"^^xsd:double ; + gpml:graphId "c3ec5" ; + gpml:hasComment , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/617954" ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "6.082873981742219"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "MMDS6" ; gpml:valign "Middle" ; - gpml:width "70.89191721537954"^^xsd:double ; - gpml:zorder "33097"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33286"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "587.6224988014437"^^xsd:double ; - gpml:centerY "236.29410515891203"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "1485.93086306829"^^xsd:double ; + gpml:centerY "567.6411494489914"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c1031" ; - gpml:height "8.598352231477302"^^xsd:double ; + gpml:graphId "bb24d" ; + gpml:height "35.93478260869546"^^xsd:double ; + gpml:href "https://omim.org/entry/252010" ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "5.494427142396818"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "Mitochondrial complex I \ndeficiency" ; gpml:valign "Middle" ; - gpml:width "32.82927389901314"^^xsd:double ; - gpml:zorder "33162"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b7776" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33307"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f97f6" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "685.5252814498098"^^xsd:double . + gpml:width "137.50281397256566"^^xsd:double ; + gpml:zorder "33266"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b297a" ; + dcterms:isPartOf , ; + gpml:graphRef "efa26" ; gpml:relX "0.0"^^xsd:double ; gpml:relY "1.0"^^xsd:double ; - gpml:x "588.1440787285369"^^xsd:double ; - gpml:y "700.9404690146097"^^xsd:double . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "de4" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "f91b7" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33087"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "cofactor to PYCR3" . + gpml:x "519.142053445851"^^xsd:double ; + gpml:y "791.2148382559774"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1162.1162804268006"^^xsd:double ; - gpml:centerY "171.05660377358518"^^xsd:double ; + gpml:centerX "1479.5157687286671"^^xsd:double ; + gpml:centerY "781.4400705850414"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -5725,207 +5555,264 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "e4858" ; - gpml:hasComment , ; + gpml:graphId "cdeb9" ; + gpml:hasComment ; gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/300816" ; + gpml:href "https://omim.org/entry/617222" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "COXPD6" ; + gpml:textlabel "SCFI" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33357"^^xsd:long . + gpml:zorder "33351"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "fbdf0" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "184.49172404302004"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "d1da1" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1050.132075471698"^^xsd:double ; + gpml:y "281.4339622641506"^^xsd:double . - + rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "de4" ; + dcterms:isPartOf ; + gpml:biopaxRef "c66" ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "d8dfc" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; + gpml:graphId "b7798" ; + gpml:hasAnchor ; + gpml:hasComment ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33077"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "efb00" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "105.91738408516973"^^xsd:double . + gpml:zorder "33412"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "383.3794295592049"^^xsd:double ; - gpml:centerY "439.2713915298186"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "559.3443636989259"^^xsd:double ; + gpml:centerY "265.201712463832"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "b06b8" ; - gpml:height "25.00000000000001"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "cfc3d" ; + gpml:height "8.598352231477302"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "SLC25A46" ; - gpml:type "GeneProduct" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "3.8476893786001436"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000164209" ; - gpml:zorder "33172"^^xsd:long . + gpml:width "24.96026874658877"^^xsd:double ; + gpml:zorder "33166"^^xsd:long . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Methylglutaconic aciduria type III" . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "d6ffb" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1430.8727235334063"^^xsd:double ; + gpml:y "405.5791759758225"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ade9c" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "190.0255102040819"^^xsd:double ; + gpml:y "741.9230557233752"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ed9d8" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447471"^^xsd:double ; + gpml:y "646.4401877525798"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c9bf0" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "129.06416417672543"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "404.4257992633706"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "737.610630942092"^^xsd:double ; + gpml:centerY "291.71460354044575"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; + gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "dbd7e" ; - gpml:hasComment , , ; + gpml:graphId "d37dc" ; gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/610198" ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MGCA5" ; + gpml:shapeType "None" ; + gpml:textlabel "Mitophagy" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33260"^^xsd:long . + gpml:width "95.34053586862709"^^xsd:double ; + gpml:zorder "33179"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "145.0255102040819"^^xsd:double ; - gpml:centerY "785.3061224489807"^^xsd:double ; + gpml:centerX "1409.0566037735848"^^xsd:double ; + gpml:centerY "914.7169811320756"^^xsd:double ; gpml:color "0" ; - gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "a89d1" ; - gpml:hasComment ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "c7a9f" ; + gpml:height "311.3207547169807"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "COQ5" ; - gpml:type "Protein" ; + gpml:shape "0.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q5HYK3" ; - gpml:zorder "33200"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "af069" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "687.1587145378032"^^xsd:double . + gpml:width "326.41509433962244"^^xsd:double ; + gpml:zorder "33349"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.4347826086957"^^xsd:double ; - gpml:centerY "171.05660377358518"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "973.4317862165962"^^xsd:double ; + gpml:centerY "770.9001406469761"^^xsd:double ; + gpml:color "14961e" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "ce651" ; + gpml:graphId "d7203" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "AIFM1" ; - gpml:type "GeneProduct" ; + gpml:textlabel "Urea Cycle" ; + gpml:type "Pathway" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000156709" ; - gpml:zorder "33356"^^xsd:long . + gpml:xrefDataSource "WikiPathways" ; + gpml:xrefId "WP4571" ; + gpml:zorder "33109"^^xsd:long . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; + + rdf:type gpml:Anchor ; + dcterms:isPartOf , ; + gpml:graphId "a043c" ; + gpml:position "0.4"^^xsd:double ; + gpml:shape "None" . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:biopaxRef "de4" ; + gpml:centerX "649.1596343178618"^^xsd:double ; + gpml:centerY "810.43600562588"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "ce748" ; + gpml:hasComment ; + gpml:hasPublicationXref ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "PYCR2" ; + gpml:type "Protein" ; + gpml:valign "Middle" ; + gpml:width "63.1293952180022"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q96C36" ; + gpml:zorder "33219"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Perrault syndrome type 3" . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "a10a8" ; - gpml:hasPoint , ; - gpml:lineStyle "Solid" ; + gpml:graphId "e66b2" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33078"^^xsd:long . + gpml:zorder "33385"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf , ; - gpml:align "Center" ; - gpml:centerX "362.111612086696"^^xsd:double ; - gpml:centerY "732.1950450739852"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "d284e" ; - gpml:groupRef "e6623" ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "COQ3" ; - gpml:type "Protein" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q9NZJ6" ; - gpml:zorder "33201"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "cc4e5" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "145.0255102040819"^^xsd:double ; + gpml:y "909.4801038295545"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "a724c" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "504.4961754207037"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1819.6252877585632"^^xsd:double ; - gpml:centerY "994.1173570009523"^^xsd:double ; + gpml:centerX "1486.938057312894"^^xsd:double ; + gpml:centerY "453.31231022314086"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -5934,24 +5821,24 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "eacc7" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/612989" ; + gpml:graphId "b5838" ; + gpml:hasComment ; + gpml:height "35.93478260869544"^^xsd:double ; + gpml:href "https://omim.org/entry/607259" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "OPA7" ; + gpml:textlabel "Paraplegin\nDeficiency" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33363"^^xsd:long . + gpml:width "110.1162790697674"^^xsd:double ; + gpml:zorder "33317"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "862.517985611511"^^xsd:double ; - gpml:centerY "308.56115107913695"^^xsd:double ; + gpml:centerX "326.9698548261071"^^xsd:double ; + gpml:centerY "961.4909882215868"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -5960,94 +5847,26 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "f6126" ; + gpml:graphId "d7de2" ; + gpml:groupRef "c3110" ; gpml:height "25.0"^^xsd:double ; - gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Degradation" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "UFD1" ; + gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:zorder "33099"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d44d9" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "927.1800281293953"^^xsd:double ; - gpml:y "844.3459915611817"^^xsd:double . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "c66" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "c84b7" ; - gpml:hasAnchor ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33399"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f26f1" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "568.997214921744"^^xsd:double . - - - rdf:type gpml:Group ; - dcterms:isPartOf ; - gpml:graphId "e425a" ; - gpml:groupId "fb48e" ; - gpml:style "Group" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f5ac7" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.358515130155"^^xsd:double ; - gpml:y "609.2900247998942"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d37dc" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "737.610630942092"^^xsd:double ; - gpml:y "291.71460354044575"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Combined oxidative phosphorylation deficiency type 18" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b817d" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.6982492512773"^^xsd:double ; - gpml:y "454.5337471041773"^^xsd:double . + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q92890" ; + gpml:zorder "33114"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "462.0"^^xsd:double ; + gpml:centerX "145.0255102040819"^^xsd:double ; + gpml:centerY "835.5099398142537"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -6056,25 +5875,36 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "d3401" ; + gpml:graphId "bc7a6" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "LONP1" ; - gpml:type "GeneProduct" ; + gpml:textlabel "TMEM126A" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; + gpml:width "96.95437415472585"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P36776" ; - gpml:zorder "33128"^^xsd:long . + gpml:xrefId "Q9H061" ; + gpml:zorder "33197"^^xsd:long . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "e3176" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33340"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.7563887861609"^^xsd:double ; - gpml:centerY "454.5337471041773"^^xsd:double ; + gpml:centerX "1484.610108351309"^^xsd:double ; + gpml:centerY "714.398921832883"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -6083,94 +5913,123 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b817d" ; - gpml:hasComment , ; - gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/165500" ; + gpml:graphId "b502b" ; + gpml:hasComment , , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/618201" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "OPA1" ; + gpml:textlabel "EIEE68" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33239"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f1e44" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "372.9654603733909"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Intellectual disability and seizure disorder due to TIMM50 variant" . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33373"^^xsd:long . - - rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "Optic atrophy type 11" . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "d0e04" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33302"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fa733" ; + dcterms:isPartOf , ; + gpml:graphRef "d9dab" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939114"^^xsd:double ; - gpml:y "747.8124895070985"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Combined Oxidative Phosphorylation Defect 6" . + gpml:x "909.14529676699"^^xsd:double ; + gpml:y "1082.8255274754147"^^xsd:double . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "e5bc2" ; - gpml:hasPoint , ; + gpml:graphId "c3807" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33217"^^xsd:long . + gpml:zorder "33327"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ac59e" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.5"^^xsd:double ; + gpml:x "755.42194092827"^^xsd:double ; + gpml:y "782.4639592123771"^^xsd:double . + + + rdf:type gpml:Anchor ; + dcterms:isPartOf , ; + gpml:graphId "dab6e" ; + gpml:position "0.528606673079381"^^xsd:double ; + gpml:shape "None" . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "1321.3817486860962"^^xsd:double ; + gpml:centerY "453.31231022314086"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "c8fb8" ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "SPG7" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000197912" ; + gpml:zorder "33316"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.7563887861609"^^xsd:double ; - gpml:centerY "201.127382957748"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "1737.7486368481757"^^xsd:double ; + gpml:centerY "325.9715447564755"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; + gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "c2ef6" ; - gpml:hasComment ; + gpml:graphId "b4cb8" ; gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/214400" ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "CMT4A" ; + gpml:shapeType "None" ; + gpml:textlabel "Fusion" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33227"^^xsd:long . + gpml:width "83.0"^^xsd:double ; + gpml:zorder "33255"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1162.6823181626498"^^xsd:double ; - gpml:centerY "281.4339622641506"^^xsd:double ; + gpml:centerX "1486.938057312894"^^xsd:double ; + gpml:centerY "232.61151079136692"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -6179,79 +6038,77 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b3895" ; - gpml:hasComment , ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/617713" ; + gpml:graphId "c7359" ; + gpml:hasComment ; + gpml:height "44.27400595692549"^^xsd:double ; + gpml:href "https://www.iembase.com/disorder/1198" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "COXPD33" ; + gpml:textlabel "Pitrilysin\nmetallopeptidase 1\ndeficiency" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33366"^^xsd:long . + gpml:zorder "33337"^^xsd:long . - - rdf:type gpml:Anchor ; - dcterms:isPartOf , ; - gpml:graphId "a9a5f" ; - gpml:position "0.528606673079381"^^xsd:double ; - gpml:shape "None" . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "df677" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33361"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f840e" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "f8efc" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1429.5519688164254"^^xsd:double ; - gpml:y "666.4039975566716"^^xsd:double . + gpml:x "1709.8804197939107"^^xsd:double ; + gpml:y "1041.8532060575558"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "cacb6" ; - gpml:relX "0.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "c9c4b" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "279.0293685672128"^^xsd:double ; - gpml:y "741.8134543345593"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "AKA NPL4" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ec753" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "611.9690576652604"^^xsd:double ; - gpml:y "723.2383966244734"^^xsd:double . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "feac7" ; - gpml:hasPoint , ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33075"^^xsd:long . + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "227.4023354394256"^^xsd:double . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Optic Atrophy 1 and deafness" . + + rdf:type gpml:shape ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "1746.5107913669065"^^xsd:double ; + gpml:centerY "746.5107913669063"^^xsd:double ; + gpml:color "0" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "ad0f8" ; + gpml:height "149.2805755395682"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shape "0.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "" ; + gpml:valign "Middle" ; + gpml:width "275.1798561151078"^^xsd:double ; + gpml:zorder "33328"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "373.5"^^xsd:double ; - gpml:centerY "145.0"^^xsd:double ; + gpml:centerX "1737.7486368481757"^^xsd:double ; + gpml:centerY "98.40456340500242"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -6260,409 +6117,322 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "fecf9" ; + gpml:graphId "a9ccd" ; gpml:height "25.0"^^xsd:double ; gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "None" ; - gpml:textlabel "Filamentous\nmitochondria" ; + gpml:textlabel "Fission" ; gpml:valign "Middle" ; - gpml:width "141.0"^^xsd:double ; - gpml:zorder "33142"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d7890" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "138.14099751352933"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c2caf" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939114"^^xsd:double ; - gpml:y "792.0582155873584"^^xsd:double . + gpml:width "83.0"^^xsd:double ; + gpml:zorder "33234"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "efb00" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "e838c" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "105.91738408516973"^^xsd:double . + gpml:x "1765.358515130155"^^xsd:double ; + gpml:y "700.258532672566"^^xsd:double . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "779.1534719305375"^^xsd:double ; - gpml:centerY "91.03543647363865"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1004.434782608696"^^xsd:double ; + gpml:centerY "316.9820898344288"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "14.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "ce221" ; + gpml:fontWeight "Bold" ; + gpml:graphId "e3b62" ; gpml:height "25.0"^^xsd:double ; - gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Mitochondrial degradation" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "CLPB" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "241.40886409741182"^^xsd:double ; - gpml:zorder "33177"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d4049" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "405.83007524598315"^^xsd:double . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "cea54" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33228"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Not part of OMIM, only gene ID (https://omim.org/entry/608112)" . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000162129" ; + gpml:zorder "33291"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1819.6252877585634"^^xsd:double ; - gpml:centerY "863.9080949138895"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "418.13954341560066"^^xsd:double ; + gpml:centerY "269.52051360790466"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "e9842" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/300919" ; + gpml:graphId "d933b" ; + gpml:height "11.290407690665027"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MRX99" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "5.817997538752222"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33331"^^xsd:long . + gpml:width "70.89191721537954"^^xsd:double ; + gpml:zorder "33153"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "646.4401877525798"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "1402.1037735849056"^^xsd:double ; + gpml:centerY "627.4959702833534"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; + gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "ed9d8" ; - gpml:hasComment ; + gpml:graphId "a13e4" ; gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/617248" ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MGCA8" ; + gpml:shapeType "None" ; + gpml:textlabel "Motility" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33320"^^xsd:long . + gpml:width "83.0"^^xsd:double ; + gpml:zorder "33370"^^xsd:long . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "de4" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b8974" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33083"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b7f9b" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "456.94595548059783"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "860.668109689627"^^xsd:double ; - gpml:centerY "1082.8255274754147"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "447.24644654750426"^^xsd:double ; + gpml:centerY "538.0102263896055"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "d9dab" ; - gpml:height "24.999999999999968"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "b5a22" ; + gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "VCP" ; - gpml:type "Protein" ; + gpml:shapeType "None" ; + gpml:textlabel "Mitochondrial function" ; gpml:valign "Middle" ; - gpml:width "96.95437415472591"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P55072" ; - gpml:zorder "33416"^^xsd:long . + gpml:width "223.0"^^xsd:double ; + gpml:zorder "33184"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Comment ; + dcterms:isPartOf , ; + gpml:commentText "Acylglycerol kinase deficiency" . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Elbow" ; + gpml:graphId "dbf59" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33203"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f9805" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "422.7678102472463"^^xsd:double . + + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "187.0"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "520.3443636989259"^^xsd:double ; + gpml:centerY "243.201712463832"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "e46dc" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "ff346" ; + gpml:height "8.598352231477302"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "AFG3L2" ; - gpml:type "GeneProduct" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "2.331357265694436"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000141385" ; - gpml:zorder "33105"^^xsd:long . + gpml:width "24.96026874658877"^^xsd:double ; + gpml:zorder "33165"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "960.9172941350464"^^xsd:double ; - gpml:centerY "965.7101004153355"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "490.2672441270403"^^xsd:double ; + gpml:centerY "191.89952101964715"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "df833" ; - gpml:groupRef "b7d9d" ; - gpml:height "24.99999999999994"^^xsd:double ; + gpml:graphId "e691e" ; + gpml:height "8.598352231477302"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "UBXN1" ; - gpml:type "Protein" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "5.3264107500554605"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "96.95437415472593"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q04323" ; - gpml:zorder "33400"^^xsd:long . + gpml:width "32.82927389901314"^^xsd:double ; + gpml:zorder "33156"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b7b26" ; + dcterms:isPartOf , ; + gpml:graphRef "a7f11" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "379.9698548261071"^^xsd:double ; - gpml:y "973.9909882215868"^^xsd:double . + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "280.5751060406617"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d7203" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "ae348" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "928.4317862165962"^^xsd:double ; - gpml:y "770.9001406469761"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Harel-Yoon syndrome" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Selenoprotein Z deficiency" . + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "471.4014882383834"^^xsd:double . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "158.5"^^xsd:double ; - gpml:centerY "91.03543647363864"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1004.4347826086959"^^xsd:double ; + gpml:centerY "456.94595548059783"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "14.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "f9d89" ; + gpml:fontWeight "Bold" ; + gpml:graphId "b7f9b" ; gpml:height "25.0"^^xsd:double ; - gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Mitochondrial biogenesis" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "GFER" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "223.0"^^xsd:double ; - gpml:zorder "33100"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "HGNC" ; + gpml:xrefId "GFER" ; + gpml:zorder "33271"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "489.8440360698489"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "535.5"^^xsd:double ; + gpml:centerY "306.0"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "bbece" ; + gpml:fontStyle "Italic" ; + gpml:fontWeight "Normal" ; + gpml:graphId "c2d5b" ; gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "TIMM8A" ; - gpml:type "GeneProduct" ; + gpml:shapeType "None" ; + gpml:textlabel "Fission" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000126953" ; - gpml:zorder "33262"^^xsd:long . + gpml:width "83.0"^^xsd:double ; + gpml:zorder "33148"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b502b" ; + dcterms:isPartOf , ; + gpml:graphRef "eb5b1" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1429.5519688164254"^^xsd:double ; - gpml:y "714.398921832883"^^xsd:double . + gpml:x "1430.8727235334063"^^xsd:double ; + gpml:y "182.25477102149193"^^xsd:double . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "fff9f" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33267"^^xsd:long . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Spastic paraplegia type7" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d1d50" ; - gpml:relX "1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "d5e5d" ; + gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "567.6411494489925"^^xsd:double . + gpml:x "1424.4576291937838"^^xsd:double ; + gpml:y "1005.530997304581"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "dbd7e" ; + dcterms:isPartOf , ; + gpml:graphRef "b0609" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447471"^^xsd:double ; - gpml:y "404.4257992633706"^^xsd:double . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "ec401" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33338"^^xsd:long . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "710.42194092827"^^xsd:double ; - gpml:centerY "844.1912798874816"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "b723b" ; - gpml:hasComment ; - gpml:height "35.00351617440231"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "pyrroline-5-\ncarboxylate" ; - gpml:type "Metabolite" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:15893" ; - gpml:zorder "33205"^^xsd:long . + gpml:x "1765.6982492512773"^^xsd:double ; + gpml:y "169.42195660115897"^^xsd:double . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "encephalopathy due to defective mitochondrondrial and peroxisomal fission" . + dcterms:isPartOf ; + gpml:commentText "MAGMAS deficiency" . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "458.25"^^xsd:double ; - gpml:centerY "308.88425925925924"^^xsd:double ; + gpml:centerX "739.1011235955048"^^xsd:double ; + gpml:centerY "378.18993085566126"^^xsd:double ; gpml:color "0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; @@ -6670,23 +6440,23 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "fc319" ; - gpml:height "376.7685185185184"^^xsd:double ; + gpml:graphId "a8686" ; + gpml:height "89.89498703543612"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "305.5"^^xsd:double ; - gpml:zorder "33140"^^xsd:long . + gpml:width "115.81676750216083"^^xsd:double ; + gpml:zorder "33180"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.8804197939116"^^xsd:double ; - gpml:centerY "184.49172404302004"^^xsd:double ; + gpml:centerX "1004.434782608696"^^xsd:double ; + gpml:centerY "357.42933354254154"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -6695,142 +6465,113 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "fbdf0" ; + gpml:graphId "f0196" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "GDAP1L1" ; + gpml:textlabel "CLPP" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "HGNC" ; - gpml:xrefId "GDAP1L1" ; - gpml:zorder "33225"^^xsd:long . + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000125656" ; + gpml:zorder "33294"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Autosomal dominant spastic paraplegia type 13" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "fdf22" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1368.9216899044666"^^xsd:double ; + gpml:y "984.2102425875993"^^xsd:double . + + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "383.3794295592049"^^xsd:double ; - gpml:centerY "339.2713915298186"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1745.3136867147791"^^xsd:double ; + gpml:centerY "485.37972743234565"^^xsd:double ; + gpml:color "0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "e3f0f" ; - gpml:height "25.00000000000001"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "c55ec" ; + gpml:height "295.4209748892174"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "MFN2" ; - gpml:type "GeneProduct" ; + gpml:shape "0.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000116688" ; - gpml:zorder "33170"^^xsd:long . + gpml:width "276.2186115214185"^^xsd:double ; + gpml:zorder "33254"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "752.8414001728613"^^xsd:double ; - gpml:centerY "240.76923076923075"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "543.8874866289124"^^xsd:double ; + gpml:centerY "235.38928777083962"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c160e" ; - gpml:height "25.0"^^xsd:double ; - gpml:href "" ; + gpml:graphId "acb02" ; + gpml:height "9.305177239064992"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "+" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "4.781866897858804"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "33.76404494382022"^^xsd:double ; - gpml:zorder "33098"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "bc7a6" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "145.0255102040819"^^xsd:double ; - gpml:y "848.0099398142537"^^xsd:double . + gpml:width "20.17666549466754"^^xsd:double ; + gpml:zorder "33167"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "535.5"^^xsd:double ; - gpml:centerY "356.0"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "593.5502294747585"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "df966" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "e0ebc" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/605280" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "GDAP1L1" ; - gpml:type "GeneProduct" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "SPG13" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "HGNC" ; - gpml:xrefId "GDAP1L1" ; - gpml:zorder "33145"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "edb40" ; - gpml:hasPoint , ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33082"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c8d5c" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1713.357606871274"^^xsd:double ; - gpml:y "863.9080949138895"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b723b" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "710.42194092827"^^xsd:double ; - gpml:y "826.6895218002805"^^xsd:double . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33306"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.8804197939107"^^xsd:double ; - gpml:centerY "1041.8532060575558"^^xsd:double ; + gpml:centerX "1664.8804197939116"^^xsd:double ; + gpml:centerY "372.9654603733909"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -6839,178 +6580,188 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "f8efc" ; - gpml:hasComment , ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "f1e44" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "RTN4IP1" ; - gpml:type "Protein" ; + gpml:textlabel "MFN2" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q8WWV3" ; - gpml:zorder "33376"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "f3f46" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33249"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "e4bcd" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33242"^^xsd:long . + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000116688" ; + gpml:zorder "33246"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d1ee0" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1424.4576291937838"^^xsd:double ; - gpml:y "825.4023347359844"^^xsd:double . + dcterms:isPartOf , ; + gpml:graphRef "ac59e" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "-0.5"^^xsd:double ; + gpml:x "755.42194092827"^^xsd:double ; + gpml:y "764.962201125176"^^xsd:double . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1485.93086306829"^^xsd:double ; - gpml:centerY "355.95653446638823"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "534.6326707000864"^^xsd:double ; + gpml:centerY "462.63096482029874"^^xsd:double ; + gpml:color "0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c3ec5" ; - gpml:hasComment , ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/617954" ; + gpml:graphId "cc909" ; + gpml:height "41.114952463266455"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; + gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MMDS6" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33286"^^xsd:long . + gpml:width "115.81676750216083"^^xsd:double ; + gpml:zorder "33168"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "1485.93086306829"^^xsd:double ; - gpml:centerY "567.6411494489914"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "496.0650935200687"^^xsd:double ; + gpml:centerY "997.8897084809888"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "bb24d" ; - gpml:height "35.93478260869546"^^xsd:double ; - gpml:href "https://omim.org/entry/252010" ; + gpml:graphId "bdcf2" ; + gpml:groupRef "c3ba6" ; + gpml:hasComment ; + gpml:height "25.000000000000075"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "Mitochondrial complex I \ndeficiency" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "NPLOC4" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "137.50281397256566"^^xsd:double ; - gpml:zorder "33266"^^xsd:long . + gpml:width "96.95437415472591"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q8TAT6" ; + gpml:zorder "33394"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a33c3" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1079.8314843537235"^^xsd:double ; - gpml:y "977.9357750914614"^^xsd:double . + + rdf:type gpml:Group ; + dcterms:isPartOf ; + gpml:graphId "da100" ; + gpml:groupId "c3ba6" ; + gpml:style "Complex" . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "DCMA syndrome" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f2175" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "685.1125175808714"^^xsd:double ; - gpml:y "707.60900140647"^^xsd:double . + dcterms:isPartOf ; + gpml:commentText "Optic atrophy type 7" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; 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+ gpml:xrefId "WP78" ; + gpml:zorder "33212"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f82e1" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1764.5671482236799"^^xsd:double ; - gpml:y "902.2991134825588"^^xsd:double . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Mitochondria processing peptidase beta deficiency" . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "a9d40" ; - gpml:hasPoint , ; + gpml:graphId "a5caa" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33383"^^xsd:long . + gpml:zorder "33305"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf , ; + gpml:commentText "\"Collectively, these findings suggest that USP9x regulates the proline biosynthesis pathway and the proline cycle via PYCR3, which affects PPP and mitochondrial respiration.\" DOI: https://doi.org/10.1038/s41420-024-02111-2" . + + + rdf:type gpml:Point ; 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+ gpml:y "687.1587145378032"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c2204" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "ab04f" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.698249251277"^^xsd:double ; - gpml:y "391.33417764017156"^^xsd:double . + gpml:x "1709.8804197939114"^^xsd:double ; + gpml:y "571.225032185418"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Glucocorticoid deficiency type 5" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c5430" ; + dcterms:isPartOf , ; + gpml:graphRef "f26f1" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "897.6300984528837"^^xsd:double ; - gpml:y "789.3389592123767"^^xsd:double . + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "568.997214921744"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d73d6" ; + dcterms:isPartOf , ; + gpml:graphRef "d5d0e" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1713.357606871274"^^xsd:double ; + gpml:y "945.2517985611508"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ae67b" ; gpml:relX "0.0"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "145.0255102040815"^^xsd:double ; - gpml:y "700.9404690146097"^^xsd:double . + gpml:relY "-1.0"^^xsd:double ; + gpml:x "825.0310559006213"^^xsd:double ; + gpml:y "1017.5"^^xsd:double . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "de4" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "dad72" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33220"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1486.938057312894"^^xsd:double ; - gpml:centerY "453.31231022314086"^^xsd:double ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "685.5252814498098"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -7145,62 +6913,68 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b5838" ; - gpml:hasComment ; - gpml:height "35.93478260869544"^^xsd:double ; - gpml:href "https://omim.org/entry/607259" ; + gpml:graphId "f97f6" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/600373" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "Paraplegin\nDeficiency" ; + gpml:textlabel "CODAS" ; gpml:valign "Middle" ; - gpml:width "110.1162790697674"^^xsd:double ; - gpml:zorder "33317"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33298"^^xsd:long . - + rdf:type gpml:Interaction ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "af333" ; - gpml:hasPoint , ; + gpml:graphId "b7377" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33213"^^xsd:long . + gpml:zorder "33208"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "687.1587145378032"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "af069" ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "TRAK1" ; - gpml:type "GeneProduct" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000182606" ; - gpml:zorder "33368"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "d98fb" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447474"^^xsd:double ; + gpml:y "357.4293335425416"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Axonal Charcot-Marie-Tooth disease type 2A2A" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "X-linked mental retardation type 99" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e3b62" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "316.9820898344288"^^xsd:double . - + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" . + + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1484.610108351309"^^xsd:double ; - gpml:centerY "714.398921832883"^^xsd:double ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "504.2570901816184"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -7209,51 +6983,61 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b502b" ; - gpml:hasComment , , ; + gpml:graphId "a9988" ; + gpml:hasComment , ; gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/618201" ; + gpml:href "https://omim.org/entry/182170" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "EIEE68" ; + gpml:textlabel "SIDBA4" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33373"^^xsd:long . + gpml:zorder "33301"^^xsd:long . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "c7e41" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33379"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f4049" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:graphRef "b7b26" ; + gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.6982492512773"^^xsd:double ; - gpml:y "423.1748106196871"^^xsd:double . + gpml:x "379.9698548261071"^^xsd:double ; + gpml:y "973.9909882215868"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c0a49" ; - gpml:relX "-1.0"^^xsd:double ; + dcterms:isPartOf , ; + gpml:relX "0.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.358515130155"^^xsd:double ; - gpml:y "747.8124895070986"^^xsd:double . + gpml:x "1044.7692824689352"^^xsd:double ; + gpml:y "978.1003702857859"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "be9db" ; + dcterms:isPartOf , ; + gpml:graphRef "d7203" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1424.4576291937838"^^xsd:double ; - gpml:y "971.0026954177887"^^xsd:double . + gpml:x "928.4317862165962"^^xsd:double ; + gpml:y "770.9001406469761"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "383.3794295592049"^^xsd:double ; - gpml:centerY "464.27139152981863"^^xsd:double ; + gpml:centerY "439.2713915298186"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -7262,250 +7046,327 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "bbafe" ; + gpml:graphId "b06b8" ; gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "YME1L1" ; - gpml:type "GeneProduct" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000136758" ; - gpml:zorder "33174"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "eee98" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; 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- gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:18257" ; - gpml:zorder "33207"^^xsd:long . + gpml:textlabel "SLC25A46" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000164209" ; + gpml:zorder "33172"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "cb0f5" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "404.4257992633706"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "m-AAA protease AFG3L2 subunit deficiency" . + dcterms:isPartOf , ; + gpml:graphRef "b6e2a" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "-1.0"^^xsd:double ; + gpml:x "586.0302390998597"^^xsd:double ; + gpml:y "797.9360056258801"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "dd58f" ; + dcterms:isPartOf , ; + gpml:graphRef "ef087" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1713.357606871274"^^xsd:double ; - gpml:y "994.1173570009523"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Combined oxidative phosphorylation deficiency type 31" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Childhood-onset optic atrophy type 1" . + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "250.59712230215825"^^xsd:double . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "1737.7486368481757"^^xsd:double ; - gpml:centerY "325.9715447564755"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1132.8314843537235"^^xsd:double ; + gpml:centerY "990.4357750914616"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; - gpml:fontWeight "Normal" ; - gpml:graphId "b4cb8" ; - gpml:height "25.0"^^xsd:double ; - gpml:href "" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "f56f9" ; + gpml:groupRef "a7bc4" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Fusion" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "MFN2" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "83.0"^^xsd:double ; - gpml:zorder "33255"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000116688" ; + gpml:zorder "33405"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1486.938057312894"^^xsd:double ; - gpml:centerY "232.61151079136692"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "387.0"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "c7359" ; - gpml:hasComment ; - gpml:height "44.27400595692549"^^xsd:double ; - gpml:href "https://www.iembase.com/disorder/1198" ; + gpml:fontWeight "Bold" ; + gpml:graphId "c0673" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "Pitrilysin\nmetallopeptidase 1\ndeficiency" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "HSPA9" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33337"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000113013" ; + gpml:zorder "33125"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "QIL1 deficiency" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f6126" ; + dcterms:isPartOf , ; + gpml:graphRef "f5f9b" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "817.517985611511"^^xsd:double ; - gpml:y "308.56115107913695"^^xsd:double . + gpml:x "1765.358515130155"^^xsd:double ; + gpml:y "571.2250321854178"^^xsd:double . + + + rdf:type gpml:Group ; + dcterms:isPartOf ; + gpml:graphId "d9562" ; + gpml:groupId "e6623" ; + gpml:style "Group" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf , ; + gpml:commentText "AKA P5C" . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "b3f5b" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33415"^^xsd:long . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "cae15" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33332"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Hereditary motor and sensory neuropathy type 6B" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ccfcb" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1424.4576291937838"^^xsd:double ; - gpml:y "930.814016172506"^^xsd:double . + dcterms:isPartOf , ; + gpml:graphRef "bc7a6" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "145.0255102040819"^^xsd:double ; + gpml:y "848.0099398142537"^^xsd:double . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1746.5107913669065"^^xsd:double ; - gpml:centerY "746.5107913669063"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "510.2672441270403"^^xsd:double ; + gpml:centerY "211.89952101964715"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "ad0f8" ; - gpml:height "149.2805755395682"^^xsd:double ; + gpml:graphId "e1a0d" ; + gpml:height "8.598352231477302"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "4.324311636533555"^^xsd:double ; + gpml:shapeType "Mitochondria" ; gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "275.1798561151078"^^xsd:double ; - gpml:zorder "33328"^^xsd:long . + gpml:width "32.82927389901314"^^xsd:double ; + gpml:zorder "33158"^^xsd:long . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "e23b1" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33284"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c3635" ; + dcterms:isPartOf , ; + gpml:graphRef "ef087" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1021.3944812124096"^^xsd:double ; - gpml:y "978.2101004153355"^^xsd:double . + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "250.59712230215825"^^xsd:double . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Immunodeficiency type 44" . + dcterms:isPartOf ; + gpml:commentText "Costeff Syndrome" . - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Optic atrophy type 10" . + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:biopaxRef "de4" ; + gpml:centerX "852.6300984528835"^^xsd:double ; + gpml:centerY "821.842475386779"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "df8b4" ; + gpml:hasPublicationXref ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "glutamate" ; + gpml:type "Metabolite" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "ChEBI" ; + gpml:xrefId "CHEBI:14321" ; + gpml:zorder "33211"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b889b" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1368.9216899044666"^^xsd:double ; + gpml:y "930.8140161725058"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "a7cb6" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1433.6784789290896"^^xsd:double ; + gpml:y "276.78714512221137"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ade9c" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "-1.0"^^xsd:double ; + gpml:x "145.0255102040819"^^xsd:double ; + gpml:y "729.4230557233752"^^xsd:double . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37" . + dcterms:isPartOf , , ; + gpml:commentText "Active in Cytosol" . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "eca30" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33089"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "960.9172941350465"^^xsd:double ; - gpml:centerY "940.7101004153357"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "336.8343242892996"^^xsd:double ; + gpml:centerY "1082.8255274754144"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "e0b85" ; - gpml:groupRef "b7d9d" ; - gpml:height "24.999999999999968"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "a2ca6" ; + gpml:height "25.000000000000075"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "VCP" ; + gpml:textlabel "UBXD1/UBXN6" ; gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "96.95437415472591"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P55072" ; - gpml:zorder "33199"^^xsd:long . + gpml:xrefId "Q9BZV1" ; + gpml:zorder "33409"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "3-methylglutaconic aciduria type 8" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f2175" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "685.1125175808714"^^xsd:double ; + gpml:y "707.60900140647"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf , ; + gpml:commentText "also known as optic atrophy-10 (OPA10); NADPH oxidoreductase, enriched in the mitochondrial matrix of muscle tissues. DOI: https://doi.org/10.1038/s41589-023-01452-w" . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1737.7486368481757"^^xsd:double ; - gpml:centerY "98.40456340500242"^^xsd:double ; + gpml:centerX "102.54536201482063"^^xsd:double ; + gpml:centerY "607.7731092436968"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -7514,28 +7375,37 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "a9ccd" ; + gpml:graphId "a49c5" ; gpml:height "25.0"^^xsd:double ; gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "None" ; - gpml:textlabel "Fission" ; + gpml:textlabel "Phosphate\nmetabolism" ; gpml:valign "Middle" ; - gpml:width "83.0"^^xsd:double ; - gpml:zorder "33234"^^xsd:long . + gpml:width "103.51260504201679"^^xsd:double ; + gpml:zorder "33187"^^xsd:long . - + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "fb446" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "524.4664808528587"^^xsd:double . + + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Combined oxidative phosphorylation deficiency type 29" . + dcterms:isPartOf ; + gpml:commentText "Valosin-containing protein superactivity" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "312.0"^^xsd:double ; + gpml:centerY "337.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -7544,147 +7414,152 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "bf995" ; + gpml:graphId "e4955" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "SFXN4" ; + gpml:textlabel "SPG7" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000183605" ; - gpml:zorder "33134"^^xsd:long . + gpml:xrefId "ENSG00000197912" ; + gpml:zorder "33135"^^xsd:long . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "e004d" ; - gpml:hasPoint , ; + gpml:graphId "f275c" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33315"^^xsd:long . + gpml:zorder "33092"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c5430" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "897.6300984528837"^^xsd:double ; + gpml:y "789.3389592123767"^^xsd:double . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "588.1440787285369"^^xsd:double ; - gpml:centerY "688.4404690146097"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "1747.786565455718"^^xsd:double ; + gpml:centerY "662.1865156103296"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "14.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "b297a" ; - gpml:hasComment , ; + gpml:fontWeight "Normal" ; + gpml:graphId "ddc9b" ; gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "USP9X" ; - gpml:type "Protein" ; + gpml:shapeType "None" ; + gpml:textlabel "Mitochondrial degradation" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q93008" ; - gpml:zorder "33198"^^xsd:long . + gpml:width "241.40886409741182"^^xsd:double ; + gpml:zorder "33329"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "418.13954341560066"^^xsd:double ; - gpml:centerY "269.52051360790466"^^xsd:double ; - gpml:color "c0c0c0" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "d933b" ; - gpml:height "11.290407690665027"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "5.817997538752222"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; - gpml:valign "Middle" ; - gpml:width "70.89191721537954"^^xsd:double ; - gpml:zorder "33153"^^xsd:long . + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:biopaxRef "de4" ; + gpml:centerX "519.142053445851"^^xsd:double ; + gpml:centerY "773.7130801687763"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; 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+ gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; - gpml:fontWeight "Normal" ; - gpml:graphId "a13e4" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "fa7fb" ; gpml:height "25.0"^^xsd:double ; - gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Motility" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "CLPP" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "83.0"^^xsd:double ; - gpml:zorder "33370"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000125656" ; + gpml:zorder "33122"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "447.24644654750426"^^xsd:double ; - gpml:centerY "538.0102263896055"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1820.4166546650385"^^xsd:double ; + gpml:centerY "609.2900247998942"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b5a22" ; + gpml:graphId "f5ac7" ; + gpml:hasComment ; gpml:height "25.0"^^xsd:double ; - gpml:href "" ; + gpml:href "https://omim.org/entry/617302" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Mitochondrial function" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "OPA11" ; gpml:valign "Middle" ; - gpml:width "223.0"^^xsd:double ; - gpml:zorder "33184"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fc319" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "611.0"^^xsd:double ; - gpml:y "308.88425925925924"^^xsd:double . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33257"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "387.0"^^xsd:double ; + gpml:centerX "383.3794295592049"^^xsd:double ; + gpml:centerY "364.2713915298186"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -7693,194 +7568,143 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "bb420" ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "e450c" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "TIMM50" ; - gpml:type "GeneProduct" ; + gpml:textlabel "MSTO1?" ; + gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000105197" ; - gpml:zorder "33137"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fdf22" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1368.9216899044666"^^xsd:double ; - gpml:y "984.2102425875993"^^xsd:double . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "c66" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "b7798" ; - gpml:hasAnchor ; - gpml:hasComment ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33412"^^xsd:long . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:biopaxRef "f20" ; - gpml:centerX "301.31932773109236"^^xsd:double ; - gpml:centerY "688.4404690146097"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "e1971" ; - gpml:hasComment , ; - gpml:hasPublicationXref ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "RTN4IP1" ; - gpml:type "Protein" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q8WWV3" ; - gpml:zorder "33196"^^xsd:long . + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q9BUK6" ; + gpml:zorder "33175"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1030.0600480384967"^^xsd:double ; - gpml:centerY "1082.8255274754147"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "1664.8804197939112"^^xsd:double ; + gpml:centerY "902.2991134825588"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "a5497" ; - gpml:hasComment ; - gpml:height "25.000000000000075"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "e144a" ; + gpml:height "24.999999999999968"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MARCHF5" ; + gpml:textlabel "VCP" ; gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "96.95437415472591"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q9NX47" ; - gpml:zorder "33417"^^xsd:long . + gpml:xrefId "P55072" ; + gpml:zorder "33333"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "490.2672441270403"^^xsd:double ; - gpml:centerY "191.89952101964715"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "860.668109689627"^^xsd:double ; + gpml:centerY "1082.8255274754147"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "e691e" ; - gpml:height "8.598352231477302"^^xsd:double ; + gpml:fontWeight "Bold" ; + gpml:graphId "d9dab" ; + gpml:height "24.999999999999968"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "5.3264107500554605"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "VCP" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "32.82927389901314"^^xsd:double ; - gpml:zorder "33156"^^xsd:long . + gpml:width "96.95437415472591"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "P55072" ; + gpml:zorder "33416"^^xsd:long . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "c3221" ; - gpml:hasPoint , ; + gpml:graphId "bdc4e" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33281"^^xsd:long . + gpml:zorder "33237"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "MICOS complex subunit MIC13 deficiency" . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "535.5"^^xsd:double ; - gpml:centerY "306.0"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "316.98208983442885"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; + gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c2d5b" ; - gpml:height "25.0"^^xsd:double ; - gpml:href "" ; + gpml:graphId "ef49a" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/616271" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Fission" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "MEGCANN" ; gpml:valign "Middle" ; - gpml:width "83.0"^^xsd:double ; - gpml:zorder "33148"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33292"^^xsd:long . - + rdf:type gpml:Interaction ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "c22d1" ; - gpml:hasPoint , ; - gpml:lineStyle "Solid" ; + gpml:graphId "a47fe" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33081"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "early infantile epileptic encephalopathy 68" . + gpml:zorder "33214"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "e66b2" ; - gpml:hasPoint , ; + gpml:graphId "d6dae" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33385"^^xsd:long . + gpml:zorder "33216"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "417.99306480632305"^^xsd:double ; - gpml:centerY "1039.522162261105"^^xsd:double ; + gpml:centerX "1321.3817486860962"^^xsd:double ; + gpml:centerY "489.8440360698489"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -7889,63 +7713,65 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "cc400" ; - gpml:height "24.999999999999968"^^xsd:double ; + gpml:graphId "bbece" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "VCP" ; - gpml:type "Protein" ; + gpml:textlabel "TIMM8A" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "96.95437415472591"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P55072" ; - gpml:zorder "33411"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000126953" ; + gpml:zorder "33262"^^xsd:long . - + rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "Ubiquitin-specific peptidase 9 X-linked" . + dcterms:isPartOf ; + gpml:commentText "encephalopathy due to defective mitochondrondrial and peroxisomal fission" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ec753" ; + dcterms:isPartOf , ; + gpml:graphRef "c3635" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "656.9690576652604"^^xsd:double ; - gpml:y "735.7383966244734"^^xsd:double . + gpml:x "1021.3944812124096"^^xsd:double ; + gpml:y "978.2101004153355"^^xsd:double . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "543.8874866289124"^^xsd:double ; - gpml:centerY "235.38928777083962"^^xsd:double ; - gpml:color "c0c0c0" ; + gpml:centerX "1479.5157687286671"^^xsd:double ; + gpml:centerY "1005.530997304581"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "acb02" ; - gpml:height "9.305177239064992"^^xsd:double ; + gpml:graphId "d5e5d" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/618329" ; gpml:lineStyle "Solid" ; - gpml:lineThickness "3.0"^^xsd:double ; - gpml:shape "4.781866897858804"^^xsd:double ; - gpml:shapeType "Mitochondria" ; - gpml:textlabel "" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "COXPD37" ; gpml:valign "Middle" ; - gpml:width "20.17666549466754"^^xsd:double ; - gpml:zorder "33167"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33384"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "593.5502294747585"^^xsd:double ; + gpml:centerX "1819.6252877585634"^^xsd:double ; + gpml:centerY "902.2991134825588"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -7954,143 +7780,249 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "e0ebc" ; - gpml:hasComment ; + gpml:graphId "f82e1" ; + gpml:hasComment , ; gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/605280" ; + gpml:href "https://omim.org/entry/167320" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "SPG13" ; + gpml:textlabel "IBMPFD1" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33306"^^xsd:long . + gpml:zorder "33334"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e4755" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "488.6385162573631"^^xsd:double ; + gpml:y "1082.8255274754144"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "cc40d" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33390"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "3-METHYLGLUTACONIC ACIDURIA, TYPE IX" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "bbece" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "489.8440360698489"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Combined oxidative phosphorylation deficiency type 33" . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1745.3136867147791"^^xsd:double ; - gpml:centerY "485.37972743234565"^^xsd:double ; - gpml:color "0" ; + gpml:centerX "535.5"^^xsd:double ; + gpml:centerY "331.0"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "16.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Bold" ; + gpml:graphId "b1a93" ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "DNM1L" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000087470" ; + gpml:zorder "33144"^^xsd:long . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "1820.7563887861606"^^xsd:double ; + gpml:centerY "485.2132153464223"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c55ec" ; - gpml:height "295.4209748892174"^^xsd:double ; + gpml:graphId "c7697" ; + gpml:hasComment ; + gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/125250" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "" ; + gpml:textlabel "Behr syndrome" ; gpml:valign "Middle" ; - gpml:width "276.2186115214185"^^xsd:double ; - gpml:zorder "33254"^^xsd:long . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33241"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "e5e3e" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33287"^^xsd:long . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "535.5"^^xsd:double ; - gpml:centerY "461.363894811656"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1479.5157687286671"^^xsd:double ; + gpml:centerY "825.4023347359844"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "a096e" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "d1ee0" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/616811" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "TRAK1" ; - gpml:type "GeneProduct" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "COXPD29" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000182606" ; - gpml:zorder "33149"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33388"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "DCMA syndrome" . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "a2cd7" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33261"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b386b" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1765.6982492512773"^^xsd:double ; + gpml:y "138.14099751352933"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; gpml:centerX "1664.880419793911"^^xsd:double ; - gpml:centerY "994.1173570009523"^^xsd:double ; - gpml:color "990000" ; + gpml:centerY "945.2517985611508"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "dd58f" ; + gpml:fontWeight "Normal" ; + gpml:graphId "d5d0e" ; + gpml:hasComment ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "TMEM126A" ; + gpml:textlabel "YME1L1" ; gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "96.95437415472591"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q9H061" ; - gpml:zorder "33362"^^xsd:long . + gpml:xrefId "Q96TA2" ; + gpml:zorder "33108"^^xsd:long . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ea313" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "685.5252814498098"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "autosomal recessive spastic ataxia type 5" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "fc6c0" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1430.8727235334063"^^xsd:double ; + gpml:y "308.637801495481"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "bc7ea" ; - gpml:hasPoint , ; + gpml:graphId "b4616" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33088"^^xsd:long . + gpml:zorder "33273"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:biopaxRef "de4" ; - gpml:centerX "730.1125175808714"^^xsd:double ; - gpml:centerY "707.60900140647"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "f2175" ; - gpml:hasComment ; - gpml:hasPublicationXref ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "NADPH" ; - gpml:type "Metabolite" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:16474" ; - gpml:zorder "33107"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ec753" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "656.9690576652604"^^xsd:double ; + gpml:y "735.7383966244734"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1664.8804197939116"^^xsd:double ; - gpml:centerY "422.7678102472463"^^xsd:double ; + gpml:centerX "1664.880419793911"^^xsd:double ; + gpml:centerY "863.9080949138895"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -8099,120 +8031,51 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "f9805" ; - gpml:height "25.00000000000001"^^xsd:double ; + gpml:graphId "c8d5c" ; + gpml:hasComment , ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "MSTO1" ; + gpml:textlabel "USP9X" ; gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; + gpml:width "96.95437415472591"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q9BUK6" ; - gpml:zorder "33251"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "e3176" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33340"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Infantile sudden cardiac failure" . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "d0e04" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33302"^^xsd:long . + gpml:xrefId "Q93008" ; + gpml:zorder "33330"^^xsd:long . - - rdf:type gpml:shape ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "534.6326707000864"^^xsd:double ; - gpml:centerY "462.63096482029874"^^xsd:double ; + gpml:centerX "151.5"^^xsd:double ; + gpml:centerY "145.0"^^xsd:double ; gpml:color "0" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; + gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "cc909" ; - gpml:height "41.114952463266455"^^xsd:double ; + gpml:graphId "b7b6a" ; + gpml:height "25.0"^^xsd:double ; + gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shape "0.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "" ; + gpml:shapeType "None" ; + gpml:textlabel "Protein import, sorting\nand processing" ; gpml:valign "Middle" ; - gpml:width "115.81676750216083"^^xsd:double ; - gpml:zorder "33168"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Early-onset Parkinson disease type 6" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f1e44" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "372.9654603733909"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Multiple mitochondrial dysfunctions syndrome 6" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B" . - - - rdf:type gpml:Group ; - dcterms:isPartOf ; - gpml:graphId "da100" ; - gpml:groupId "c3ba6" ; - gpml:style "Complex" . - - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "c66" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "a8ea0" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33403"^^xsd:long . + gpml:width "223.0"^^xsd:double ; + gpml:zorder "33102"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "437.0"^^xsd:double ; + gpml:centerX "1004.434782608696"^^xsd:double ; + gpml:centerY "685.5252814498098"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -8221,89 +8084,115 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "ad67b" ; - gpml:hasComment ; + gpml:graphId "ea313" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "XPNPEP3 " ; - gpml:type "GeneProduct" ; + gpml:textlabel "LONP1" ; + gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000196236" ; - gpml:zorder "33139"^^xsd:long . + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "P36776" ; + gpml:zorder "33297"^^xsd:long . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "ce009" ; - gpml:hasPoint , ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33080"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "eee98" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "613.3755274261604"^^xsd:double ; + gpml:y "773.7130801687764"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d9562" ; + dcterms:isPartOf , ; + gpml:graphRef "e730f" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "309.111612086696"^^xsd:double ; - gpml:y "741.7764103711955"^^xsd:double . + gpml:x "1765.6982492512773"^^xsd:double ; + gpml:y "280.5751060406617"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "1664.8804197939116"^^xsd:double ; - gpml:centerY "280.5751060406617"^^xsd:double ; - gpml:color "990000" ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e8d9d" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "-1.0"^^xsd:double ; + gpml:x "852.6300984528835"^^xsd:double ; + gpml:y "857.3171589310828"^^xsd:double . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "de4" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "fa57c" ; + gpml:hasAnchor ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33084"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c9c4b" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "227.4023354394256"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "d2fb1" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33245"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf , ; + gpml:align "Center" ; + gpml:centerX "326.9698548261071"^^xsd:double ; + gpml:centerY "986.4909882215867"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "a7f11" ; + gpml:fontWeight "Normal" ; + gpml:graphId "c704b" ; + gpml:groupRef "c3110" ; + gpml:hasComment ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "STAT2" ; - gpml:type "GeneProduct" ; + gpml:textlabel "NPLOC4" ; + gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000170581" ; - gpml:zorder "33230"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "df677" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33361"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" . + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q8TAT6" ; + gpml:zorder "33392"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "772.4223602484482"^^xsd:double ; - gpml:centerY "966.0650347095368"^^xsd:double ; + gpml:centerX "1132.8314843537235"^^xsd:double ; + gpml:centerY "965.4357750914614"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -8312,86 +8201,109 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "c7909" ; - gpml:groupRef "fb48e" ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "eb1bf" ; + gpml:groupRef "a7bc4" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "UBXN1" ; + gpml:textlabel "MFN1" ; gpml:type "Protein" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q04323" ; - gpml:zorder "33103"^^xsd:long . + gpml:xrefId "Q8IWA4" ; + gpml:zorder "33406"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "bb24d" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1417.1794560820072"^^xsd:double ; + gpml:y "567.6411494489914"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f1e44" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1709.8804197939116"^^xsd:double ; + gpml:y "372.9654603733909"^^xsd:double . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "669.2415559233458"^^xsd:double ; - gpml:centerY "1082.8255274754144"^^xsd:double ; + gpml:centerX "145.0255102040819"^^xsd:double ; + gpml:centerY "896.9801038295545"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; + gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "fbd15" ; - gpml:height "45.2391784113167"^^xsd:double ; - gpml:href "" ; + gpml:graphId "cc4e5" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Mitochondrial\nMembrane\nPotential" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "OXA1L" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "95.34053586862709"^^xsd:double ; - gpml:zorder "33414"^^xsd:long . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q15070" ; + gpml:zorder "33104"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "b9bf6" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33374"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1819.6252877585632"^^xsd:double ; - gpml:centerY "1041.853206057556"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "212.0"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "a0f85" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/616732" ; + gpml:fontWeight "Bold" ; + gpml:graphId "a0ce6" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "OPA10" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "AIFM1" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33377"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f32bc" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1765.698249251277"^^xsd:double ; - gpml:y "359.628751283582"^^xsd:double . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000156709" ; + gpml:zorder "33118"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "389.00917915171965"^^xsd:double ; - gpml:centerY "621.789915966385"^^xsd:double ; + gpml:centerX "1321.3817486860962"^^xsd:double ; + gpml:centerY "405.83007524598315"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -8400,34 +8312,65 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "e4516" ; + gpml:graphId "d4049" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "TXNRD2" ; + gpml:textlabel "SFXN4" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000184470" ; - gpml:zorder "33190"^^xsd:long . + gpml:xrefId "ENSG00000183605" ; + gpml:zorder "33353"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e0ebc" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "593.5502294747585"^^xsd:double . + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:biopaxRef "de4" ; + gpml:centerX "852.6300984528837"^^xsd:double ; + gpml:centerY "789.3389592123767"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "c5430" ; + gpml:hasPublicationXref ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "ornithine" ; + gpml:type "Metabolite" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "ChEBI" ; + gpml:xrefId "CHEBI:18257" ; + gpml:zorder "33207"^^xsd:long . - + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "cea54" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33228"^^xsd:long . + + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "204.0"^^xsd:double ; - gpml:centerY "262.0"^^xsd:double ; + gpml:centerX "383.3794295592049"^^xsd:double ; + gpml:centerY "464.27139152981863"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -8436,25 +8379,30 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "e6c62" ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "bbafe" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PMPCA" ; + gpml:textlabel "YME1L1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000165688" ; - gpml:zorder "33132"^^xsd:long . + gpml:xrefId "ENSG00000136758" ; + gpml:zorder "33174"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Mitochondrial intermediate peptidase deficiency" . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.003072879631"^^xsd:double ; - gpml:centerY "552.3651982897275"^^xsd:double ; + gpml:centerX "1820.4166546650385"^^xsd:double ; + gpml:centerY "571.2250321854178"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -8463,70 +8411,60 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "b8bd9" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/612233" ; + gpml:graphId "f5f9b" ; + gpml:hasComment , ; + gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/616505" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "HLD4" ; + gpml:textlabel "HMSN6B" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33304"^^xsd:long . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33236"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "685.5252814498098"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "386.09334485739083"^^xsd:double ; + gpml:centerY "402.204624027659"^^xsd:double ; + gpml:color "0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "f97f6" ; - gpml:hasComment ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/600373" ; + gpml:graphId "da1b9" ; + gpml:height "162.8681936041484"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; + gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "CODAS" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33298"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a724c" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "504.4961754207037"^^xsd:double . + gpml:width "115.81676750216083"^^xsd:double ; + gpml:zorder "33169"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "c40ae" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33318"^^xsd:long . + + rdf:type gpml:Anchor ; + dcterms:isPartOf , ; + gpml:graphId "cacb6" ; + gpml:position "0.7473908118250779"^^xsd:double ; + gpml:shape "None" . - + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Immunodeficiency type 44" . + + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "362.0"^^xsd:double ; + gpml:centerX "1664.8804197939116"^^xsd:double ; + gpml:centerY "138.14099751352933"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -8535,45 +8473,54 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "f7486" ; + gpml:graphId "d7890" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "GFER" ; + gpml:textlabel "DNM1L" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "HGNC" ; - gpml:xrefId "GFER" ; - gpml:zorder "33124"^^xsd:long . + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000087470" ; + gpml:zorder "33221"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e7cb3" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1424.4576291937838"^^xsd:double ; - gpml:y "875.1861423814798"^^xsd:double . + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Combined oxidative phosphorylation deficiency type 29" . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "e3f" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "b6e51" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33076"^^xsd:long . - + rdf:type gpml:Interaction ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; - gpml:connectorType "Elbow" ; - gpml:graphId "dbf59" ; - gpml:hasPoint , ; + gpml:connectorType "Straight" ; + gpml:graphId "dc157" ; + gpml:hasPoint , ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33203"^^xsd:long . + gpml:zorder "33073"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "504.2570901816184"^^xsd:double ; + gpml:centerX "1485.9308630682897"^^xsd:double ; + gpml:centerY "405.5791759758225"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -8582,24 +8529,24 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "a9988" ; - gpml:hasComment , ; + gpml:graphId "d6ffb" ; + gpml:hasComment ; gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/182170" ; + gpml:href "https://omim.org/entry/615578" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "SIDBA4" ; + gpml:textlabel "COXPD18" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33301"^^xsd:long . + gpml:zorder "33354"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1005.1320754716982"^^xsd:double ; - gpml:centerY "281.4339622641506"^^xsd:double ; + gpml:centerX "204.0"^^xsd:double ; + gpml:centerY "312.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -8608,90 +8555,109 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "d1da1" ; + gpml:graphId "bf995" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "C1QBP" ; + gpml:textlabel "SFXN4" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000108561" ; - gpml:zorder "33365"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b56b7" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "92.03713714969838"^^xsd:double . + gpml:xrefId "ENSG00000183605" ; + gpml:zorder "33134"^^xsd:long . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "fe265" ; - gpml:hasPoint , ; + gpml:graphId "fff9f" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33358"^^xsd:long . + gpml:zorder "33267"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ce651" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.4347826086957"^^xsd:double ; - gpml:y "171.05660377358518"^^xsd:double . + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:biopaxRef "de4" ; + gpml:centerX "710.42194092827"^^xsd:double ; + gpml:centerY "773.7130801687765"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "ac59e" ; + gpml:hasComment ; + gpml:hasPublicationXref ; + gpml:height "35.00351617440231"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "pyrroline-5-\ncarboxylate" ; + gpml:type "Metabolite" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "ChEBI" ; + gpml:xrefId "CHEBI:15893" ; + gpml:zorder "33112"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "SPINOCEREBELLAR ATAXIA" . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "772.4223602484481"^^xsd:double ; - gpml:centerY "991.0650347095368"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1819.6252877585632"^^xsd:double ; + gpml:centerY "945.2517985611506"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "bf252" ; - gpml:groupRef "fb48e" ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "efc96" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/617302" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "SASK1" ; - gpml:type "Protein" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "OPA11" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "" ; - gpml:zorder "33397"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33341"^^xsd:long . - - rdf:type gpml:Group ; - dcterms:isPartOf ; - gpml:graphId "d9562" ; - gpml:groupId "e6623" ; - gpml:style "Group" . + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "ec401" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33338"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "519.142053445851"^^xsd:double ; - gpml:centerY "844.1912798874818"^^xsd:double ; - gpml:color "ff" ; + gpml:centerX "537.115703334726"^^xsd:double ; + gpml:centerY "1082.8255274754144"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; @@ -8699,25 +8665,64 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "f334b" ; - gpml:height "35.003516174402314"^^xsd:double ; + gpml:graphId "e4755" ; + gpml:height "25.000000000000075"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "Proline" ; - gpml:type "Metabolite" ; + gpml:textlabel "MCL1" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "90.00000000000001"^^xsd:double ; - gpml:xrefDataSource "ChEBI" ; - gpml:xrefId "CHEBI:26271" ; - gpml:zorder "33204"^^xsd:long . + gpml:width "96.95437415472591"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "Q07820" ; + gpml:zorder "33410"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b60c6" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1368.9216899044666"^^xsd:double ; + gpml:y "875.1861423814798"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Nephronophthisis-like nephropathy type 1" . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "e9425" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33367"^^xsd:long . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "c66" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "fb6d5" ; + gpml:hasComment ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33407"^^xsd:long . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "510.2672441270403"^^xsd:double ; - gpml:centerY "211.89952101964715"^^xsd:double ; + gpml:centerX "579.2672441270402"^^xsd:double ; + gpml:centerY "198.89952101964715"^^xsd:double ; gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; @@ -8725,7 +8730,7 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "e1a0d" ; + gpml:graphId "a0ac9" ; gpml:height "8.598352231477302"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "3.0"^^xsd:double ; @@ -8734,120 +8739,42 @@ gpml:textlabel "" ; gpml:valign "Middle" ; gpml:width "32.82927389901314"^^xsd:double ; - gpml:zorder "33158"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Epiphyseal, vertebral, ear, nose, plus associated malformations (EVEN-plus) syndrome" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "df8b4" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "897.6300984528835"^^xsd:double ; - gpml:y "821.842475386779"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a57b7" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "897.6300984528837"^^xsd:double ; - gpml:y "754.0225035161747"^^xsd:double . - - - rdf:type gpml:Label ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "1485.93086306829"^^xsd:double ; - gpml:centerY "489.8440360698489"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "cb759" ; - gpml:hasComment , ; - gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/304700" ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MTS" ; - gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33263"^^xsd:long . + gpml:zorder "33163"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "973.4317862165962"^^xsd:double ; - gpml:centerY "770.9001406469761"^^xsd:double ; - gpml:color "14961e" ; + gpml:centerX "1321.381748686096"^^xsd:double ; + gpml:centerY "609.1759196416448"^^xsd:double ; + gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "d7203" ; + gpml:graphId "b4329" ; + gpml:hasComment ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "Urea Cycle" ; - gpml:type "Pathway" ; + gpml:textlabel "XPNPEP3 " ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "WikiPathways" ; - gpml:xrefId "WP4571" ; - gpml:zorder "33109"^^xsd:long . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:biopaxRef "de4" ; - gpml:centerX "649.1596343178618"^^xsd:double ; - gpml:centerY "810.43600562588"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "ce748" ; - gpml:hasComment ; - gpml:hasPublicationXref ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "PYCR2" ; - gpml:type "Protein" ; - gpml:valign "Middle" ; - gpml:width "63.1293952180022"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q96C36" ; - gpml:zorder "33219"^^xsd:long . + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000196236" ; + gpml:zorder "33343"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "496.0650935200687"^^xsd:double ; - gpml:centerY "947.8897084809888"^^xsd:double ; + gpml:centerX "1004.434782608696"^^xsd:double ; + gpml:centerY "404.4257992633706"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -8856,110 +8783,86 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "eafc8" ; - gpml:groupRef "c3ba6" ; - gpml:height "24.999999999999968"^^xsd:double ; + gpml:graphId "cb0f5" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "VCP" ; - gpml:type "Protein" ; + gpml:textlabel "DNAJC19" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "96.95437415472591"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "P55072" ; - gpml:zorder "33395"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a5497" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "981.5828609611337"^^xsd:double ; - gpml:y "1082.8255274754147"^^xsd:double . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000205981" ; + gpml:zorder "33259"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "751.4196591487406"^^xsd:double ; - gpml:centerY "607.7731092436969"^^xsd:double ; + gpml:centerX "159.0"^^xsd:double ; + gpml:centerY "308.8842592592593"^^xsd:double ; gpml:color "0" ; - gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; + gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "a6686" ; - gpml:height "25.0"^^xsd:double ; - gpml:href "" ; + gpml:graphId "cd98a" ; + gpml:height "377.87209302325573"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Calcium\nuptake" ; + gpml:shape "0.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "103.51260504201679"^^xsd:double ; - gpml:zorder "33193"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "eb5b1" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1430.8727235334063"^^xsd:double ; - gpml:y "182.25477102149193"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Perrault syndrome type 3" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e8d9d" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "897.6300984528835"^^xsd:double ; - gpml:y "869.8171589310828"^^xsd:double . + gpml:width "224.0"^^xsd:double ; + gpml:zorder "33096"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:Label ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "145.0255102040819"^^xsd:double ; - gpml:centerY "835.5099398142537"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1484.610108351309"^^xsd:double ; + gpml:centerY "666.4039975566716"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "bc7a6" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "f840e" ; + gpml:hasComment , ; + gpml:height "48.65705171711603"^^xsd:double ; + gpml:href "https://www.iembase.com/disorder/1035" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "TMEM126A" ; - gpml:type "Protein" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "Trafficking kinesin-\nbinding protein 1\ndeficiency" ; gpml:valign "Middle" ; - gpml:width "96.95437415472585"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q9H061" ; - gpml:zorder "33197"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33371"^^xsd:long . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "edb40" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33082"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "355.9565344663881"^^xsd:double ; + gpml:centerX "114.0"^^xsd:double ; + gpml:centerY "412.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -8968,60 +8871,122 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "be7eb" ; + gpml:graphId "e932c" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PMPCB" ; + gpml:textlabel "HSPD1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000105819" ; - gpml:zorder "33285"^^xsd:long . + gpml:xrefId "ENSG00000144381" ; + gpml:zorder "33126"^^xsd:long . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; - gpml:biopaxRef "de4" ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "dad72" ; - gpml:hasPoint , ; - gpml:hasPublicationXref ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33220"^^xsd:long . + + rdf:type gpml:Comment ; + dcterms:isPartOf , ; + gpml:commentText "Ubiquitin-specific peptidase 9 X-linked" . - - rdf:type gpml:Interaction ; - dcterms:isPartOf ; + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "b7377" ; - gpml:hasPoint , ; + gpml:graphId "b7b74" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33208"^^xsd:long . + gpml:zorder "33380"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b723b" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "665.42194092827"^^xsd:double ; + gpml:y "844.1912798874816"^^xsd:double . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "1820.4166546650385"^^xsd:double ; + gpml:centerY "747.8124895070986"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "c0a49" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/600116" ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "PARK2" ; + gpml:valign "Middle" ; + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33323"^^xsd:long . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "d549a" ; - gpml:hasPoint , ; + gpml:graphId "f3f46" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33276"^^xsd:long . + gpml:zorder "33249"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:biopaxRef "de4" ; + gpml:centerX "730.1125175808714"^^xsd:double ; + gpml:centerY "707.60900140647"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "f2175" ; + gpml:hasComment ; + gpml:hasPublicationXref ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "NADPH" ; + gpml:type "Metabolite" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "ChEBI" ; + gpml:xrefId "CHEBI:16474" ; + gpml:zorder "33107"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Demyelinating Charcot-Marie-Tooth disease type 4A" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1321.3817486860962"^^xsd:double ; - gpml:centerY "453.31231022314086"^^xsd:double ; + gpml:centerX "1664.8804197939116"^^xsd:double ; + gpml:centerY "239.2703529690844"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -9030,142 +8995,116 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "c8fb8" ; + gpml:graphId "a37f0" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "SPG7" ; + gpml:textlabel "MFF" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000197912" ; - gpml:zorder "33316"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "a9b7e" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33258"^^xsd:long . + gpml:xrefId "ENSG00000168958" ; + gpml:zorder "33222"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "efb00" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "105.91738408516973"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "383.8751080380295"^^xsd:double ; - gpml:centerY "307.3569576490926"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; + gpml:centerX "1164.0030728796307"^^xsd:double ; + gpml:centerY "92.03713714969838"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Italic" ; + gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "cbac6" ; - gpml:height "25.0"^^xsd:double ; - gpml:href "" ; + gpml:graphId "b56b7" ; + gpml:hasComment , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/614487" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "None" ; - gpml:textlabel "Fusion" ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "SPAX5" ; gpml:valign "Middle" ; - gpml:width "83.0"^^xsd:double ; - gpml:zorder "33173"^^xsd:long . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "c7e41" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33379"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ef49a" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1108.9449333447474"^^xsd:double ; - gpml:y "316.98208983442885"^^xsd:double . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33312"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e425a" ; + dcterms:isPartOf , ; + gpml:graphRef "af069" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "825.4223602484481"^^xsd:double ; - gpml:y "978.5650347095368"^^xsd:double . + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "687.1587145378032"^^xsd:double . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "ab4df" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1368.9216899044666"^^xsd:double ; - gpml:y "781.4400705850414"^^xsd:double . + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "de4" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "e0d33" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33085"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c3ec5" ; + dcterms:isPartOf , ; + gpml:graphRef "a5497" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1430.8727235334063"^^xsd:double ; - gpml:y "355.95653446638823"^^xsd:double . + gpml:x "981.5828609611337"^^xsd:double ; + gpml:y "1082.8255274754147"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1747.786565455718"^^xsd:double ; - gpml:centerY "662.1865156103296"^^xsd:double ; + gpml:centerX "660.5985135724384"^^xsd:double ; + gpml:centerY "972.8182978203168"^^xsd:double ; gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "14.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; + gpml:fontStyle "Italic" ; gpml:fontWeight "Normal" ; - gpml:graphId "ddc9b" ; + gpml:graphId "dae41" ; gpml:height "25.0"^^xsd:double ; gpml:href "" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "None" ; - gpml:textlabel "Mitochondrial degradation" ; + gpml:textlabel "Mitophagy\nregulation" ; gpml:valign "Middle" ; - gpml:width "241.40886409741182"^^xsd:double ; - gpml:zorder "33329"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b3895" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1107.6241786277665"^^xsd:double ; - gpml:y "281.4339622641506"^^xsd:double . + gpml:width "95.34053586862709"^^xsd:double ; + gpml:zorder "33396"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.4166546650385"^^xsd:double ; - gpml:centerY "609.2900247998942"^^xsd:double ; + gpml:centerX "1479.5157687286671"^^xsd:double ; + gpml:centerY "875.1861423814798"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -9174,51 +9113,131 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "f5ac7" ; - gpml:hasComment ; - gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/617302" ; + gpml:graphId "e7cb3" ; + gpml:hasComment , ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/617825" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "OPA11" ; + gpml:textlabel "GCCD5" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33257"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33389"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf , ; + gpml:commentText "Degradation" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Myopathy with extrapyramidal signs" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Autosomal recessive spinocerebellar ataxia type 2" . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "337.0"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "145.0255102040815"^^xsd:double ; + gpml:centerY "688.4404690146097"^^xsd:double ; + gpml:color "14961e" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "f49a2" ; + gpml:graphId "d73d6" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "DNAJC19" ; - gpml:type "GeneProduct" ; + gpml:textlabel "CoQ Biosynthesis" ; + gpml:type "Pathway" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000205981" ; - gpml:zorder "33123"^^xsd:long . + gpml:width "120.25510204081642"^^xsd:double ; + gpml:xrefDataSource "WikiPathways" ; + gpml:xrefId "WP5037" ; + gpml:zorder "33117"^^xsd:long . + + + rdf:type gpml:PublicationXref ; + dcterms:isPartOf , , , , , , , , , , , , , , , , ; + gpml:database "Pubmed" ; + gpml:id "39075050" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f26f1" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "568.997214921744"^^xsd:double . + + + rdfs:seeAlso ; + gpml:biopaxRef "ce4" ; + gpml:boardHeight "1135.445116681073"^^xsd:double ; + gpml:boardWidth "1914.4191794838353"^^xsd:double ; + gpml:hasDataNode , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; + gpml:hasGraphicalLine , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; + gpml:hasGroup , , , , , , ; + gpml:hasInfoBox ; + gpml:hasInteraction , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; + gpml:hasLabel , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; + gpml:hasShape , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ; + gpml:name "Disorders of Mitochondrial Homeostatis, Dynamics, Protein Import, and Quality Control" ; + gpml:organism "Homo sapiens" ; + gpml:version "20241214" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "d37dc" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "737.610630942092"^^xsd:double ; + gpml:y "291.71460354044575"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "a9d40" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33383"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f5ac7" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1765.358515130155"^^xsd:double ; + gpml:y "609.2900247998942"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.434782608696"^^xsd:double ; - gpml:centerY "316.9820898344288"^^xsd:double ; + gpml:centerX "204.0"^^xsd:double ; + gpml:centerY "237.0"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -9227,25 +9246,103 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "e3b62" ; + gpml:graphId "da7f4" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "CLPB" ; - gpml:type "GeneProduct" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "PITRM1" ; + gpml:type "GeneProduct" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000107959" ; + gpml:zorder "33131"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "c8d5c" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1713.357606871274"^^xsd:double ; + gpml:y "863.9080949138895"^^xsd:double . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:biopaxRef "de4" ; + gpml:centerX "852.6300984528837"^^xsd:double ; + gpml:centerY "754.0225035161747"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "a57b7" ; + gpml:hasPublicationXref ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "arginine" ; + gpml:type "Metabolite" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "ChEBI" ; + gpml:xrefId "CHEBI:29016" ; + gpml:zorder "33106"^^xsd:long . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Early-onset Parkinson disease type 2" . + + + rdf:type gpml:Label ; + dcterms:isPartOf ; + gpml:align "Center" ; + gpml:centerX "1479.5157687286671"^^xsd:double ; + gpml:centerY "930.814016172506"^^xsd:double ; + gpml:color "ff" ; + gpml:fillColor "ffcccc" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "ccfcb" ; + gpml:hasComment ; + gpml:height "25.000000000000004"^^xsd:double ; + gpml:href "https://omim.org/entry/617183" ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "RoundedRectangle" ; + gpml:textlabel "HAYOS" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000162129" ; - gpml:zorder "33291"^^xsd:long . + gpml:width "110.11627906976739"^^xsd:double ; + gpml:zorder "33360"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "fa733" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1709.8804197939114"^^xsd:double ; + gpml:y "747.8124895070985"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.4347826086959"^^xsd:double ; - gpml:centerY "647.8755259942994"^^xsd:double ; + gpml:centerX "1323.9216899044666"^^xsd:double ; + gpml:centerY "825.4023347359844"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -9254,54 +9351,74 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "c2c2b" ; + gpml:graphId "c8d84" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "HTRA2" ; + gpml:textlabel "TXN2" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000115317" ; - gpml:zorder "33319"^^xsd:long . + gpml:xrefId "ENSG00000100348" ; + gpml:zorder "33386"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "cae15" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33332"^^xsd:long . + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:biopaxRef "de4" ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "d8dfc" ; + gpml:hasPoint , ; + gpml:hasPublicationXref ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33077"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d9854" ; + dcterms:isPartOf , ; + gpml:graphRef "f840e" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1429.5519688164254"^^xsd:double ; + gpml:y "666.4039975566716"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "ac59e" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "308.63780149548097"^^xsd:double . + gpml:x "755.42194092827"^^xsd:double ; + gpml:y "773.7130801687765"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c3c10" ; + dcterms:isPartOf , ; + gpml:graphRef "a89d1" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "1429.5519688164254"^^xsd:double ; - gpml:y "609.1759196416448"^^xsd:double . + gpml:x "100.02551020408191"^^xsd:double ; + gpml:y "785.3061224489807"^^xsd:double . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "e1971" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "256.31932773109236"^^xsd:double ; + gpml:y "688.4404690146097"^^xsd:double . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1164.0030728796307"^^xsd:double ; - gpml:centerY "316.98208983442885"^^xsd:double ; + gpml:centerX "1479.5157687286671"^^xsd:double ; + gpml:centerY "971.0026954177887"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -9310,147 +9427,76 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "ef49a" ; - gpml:hasComment ; + gpml:graphId "be9db" ; + gpml:hasComment , , , ; gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/616271" ; + gpml:href "https://www.iembase.com/disorder/1234" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "MEGCANN" ; + gpml:textlabel "MIC13" ; gpml:valign "Middle" ; gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33292"^^xsd:long . + gpml:zorder "33382"^^xsd:long . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Cerebral, ocular, dental, auricular, and skeletal syndrome" . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "e23b1" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33284"^^xsd:long . + dcterms:isPartOf ; + gpml:commentText "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "df8b4" ; + dcterms:isPartOf , ; + gpml:graphRef "eacc7" ; gpml:relX "-1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; - gpml:x "807.6300984528835"^^xsd:double ; - gpml:y "821.842475386779"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf , ; - gpml:commentText "Acylglycerol kinase deficiency" . + gpml:x "1764.5671482236799"^^xsd:double ; + gpml:y "994.1173570009523"^^xsd:double . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a14a8" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "-1.0"^^xsd:double ; - gpml:x "145.0255102040819"^^xsd:double ; - gpml:y "938.7724306688418"^^xsd:double . + dcterms:isPartOf , ; + gpml:graphRef "d7890" ; + gpml:relX "1.0"^^xsd:double ; 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- dcterms:isPartOf , , , , , , , , , , , , , , , , ; - gpml:database "Pubmed" ; - gpml:id "39075050" . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:centerX "1004.4347826086959"^^xsd:double ; - gpml:centerY "456.94595548059783"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "b7f9b" ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "GFER" ; - gpml:type "GeneProduct" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "HGNC" ; - gpml:xrefId "GFER" ; - gpml:zorder "33271"^^xsd:long . + gpml:zorder "33324"^^xsd:long . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fc319" ; - gpml:relX "-1.0"^^xsd:double ; 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- gpml:centerY "902.2991134825588"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "efb00" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1049.434782608696"^^xsd:double ; + gpml:y "105.91738408516973"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "mitochondrial processing peptidase alpha deficiency" . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Juvenile Optic Atrophy" . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "d4049" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "405.83007524598315"^^xsd:double . + + + rdf:type gpml:GraphicalLine ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "e004d" ; + gpml:hasPoint , ; + gpml:lineStyle "Broken" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33315"^^xsd:long . + + + rdf:type gpml:DataNode ; 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+ gpml:zorder "33397"^^xsd:long . - + + rdf:type gpml:Anchor ; + dcterms:isPartOf , ; + gpml:graphId "a9a5f" ; + gpml:position "0.528606673079381"^^xsd:double ; + gpml:shape "None" . + + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1004.434782608696"^^xsd:double ; - gpml:centerY "357.42933354254154"^^xsd:double ; + gpml:centerX "1664.8804197939114"^^xsd:double ; + gpml:centerY "609.9169978395636"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -9537,275 +9634,222 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "f0196" ; - gpml:height "25.0"^^xsd:double ; + gpml:graphId "a38b8" ; + gpml:height "25.00000000000001"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "CLPP" ; + gpml:textlabel "YME1L1" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000125656" ; - gpml:zorder "33294"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "d73d6" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "205.1530612244897"^^xsd:double ; - gpml:y "688.4404690146097"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f0196" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "357.42933354254154"^^xsd:double . - - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; - gpml:align "Center" ; - gpml:biopaxRef "de4" ; - gpml:centerX "611.9690576652604"^^xsd:double ; - gpml:centerY "735.7383966244734"^^xsd:double ; - gpml:color "0" ; - gpml:fillColor "ffffff" ; - gpml:fontDecoration "Normal" ; - gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; - gpml:fontStrikethru "Normal" ; - gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "ec753" ; - gpml:hasComment ; - gpml:hasPublicationXref ; - gpml:height "25.0"^^xsd:double ; - gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "PYCR3" ; - gpml:type "Protein" ; - gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Uniprot-TrEMBL" ; - gpml:xrefId "Q53H96" ; - gpml:zorder "33110"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fa9c3" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1368.9216899044666"^^xsd:double ; - gpml:y "1043.2050103060092"^^xsd:double . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Autosomal dominant spastic paraplegia type 13" . + gpml:xrefId "ENSG00000136758" ; + gpml:zorder "33256"^^xsd:long . - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "f9082" ; - gpml:relX "0.0"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "1079.3618602992344"^^xsd:double ; - gpml:y "920.8476230441051"^^xsd:double . + + rdf:type gpml:Interaction ; 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+ gpml:graphId "d1d50" ; + gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "PARK6" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "TIMMDC1" ; + gpml:type "GeneProduct" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33326"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Axonal Charcot-Marie-Tooth type 2K" . + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Ensembl" ; + gpml:xrefId "ENSG00000113845" ; + gpml:zorder "33265"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "972.1800281293953"^^xsd:double ; - gpml:centerY "844.3459915611817"^^xsd:double ; - gpml:color "14961e" ; + gpml:centerX "519.142053445851"^^xsd:double ; + gpml:centerY "844.1912798874818"^^xsd:double ; + gpml:color "ff" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "d44d9" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "f334b" ; + gpml:height "35.003516174402314"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "TCA cycle" ; - gpml:type "Pathway" ; + gpml:textlabel "Proline" ; + gpml:type "Metabolite" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "WikiPathways" ; - gpml:xrefId "WP78" ; - gpml:zorder "33212"^^xsd:long . + gpml:width "90.00000000000001"^^xsd:double ; + gpml:xrefDataSource "ChEBI" ; + gpml:xrefId "CHEBI:26271" ; + gpml:zorder "33204"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:DataNode ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1820.7563887861606"^^xsd:double ; - gpml:centerY "485.2132153464223"^^xsd:double ; 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- dcterms:isPartOf , ; - gpml:commentText "\"Collectively, these findings suggest that USP9x regulates the proline biosynthesis pathway and the proline cycle via PYCR3, which affects PPP and mitochondrial respiration.\" DOI: https://doi.org/10.1038/s41420-024-02111-2" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "No OMIM ID for disease but for the gene (https://omim.org/entry/616658)" . + gpml:width "164.0864600326264"^^xsd:double ; + gpml:xrefDataSource "WikiPathways" ; + gpml:xrefId "WP2717" ; + gpml:zorder "33115"^^xsd:long . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia" . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "b4329" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1366.381748686096"^^xsd:double ; - gpml:y "609.1759196416448"^^xsd:double . + dcterms:isPartOf ; + gpml:commentText "Epiphyseal, vertebral, ear, nose, plus associated malformations (EVEN-plus) syndrome" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e66bb" ; + dcterms:isPartOf , ; + gpml:graphRef "ec63a" ; gpml:relX "1.0"^^xsd:double ; gpml:relY "0.0"^^xsd:double ; gpml:x "1366.3817486860962"^^xsd:double ; - gpml:y "529.4877945969174"^^xsd:double . + gpml:y "182.25477102149193"^^xsd:double . - + rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "IEMnosology IEM1375" . + dcterms:isPartOf , ; + gpml:commentText "\"COQ3 was the most strongly biotinylated protein by RTN4IP1-TurboID, suggesting a potential involvement of RTN4IP1 in the CoQ production pathway within the mitochondria\" DOI: https://doi.org/10.1038/s41589-023-01452-w" . + + + rdf:type gpml:Interaction ; + dcterms:isPartOf ; + gpml:color "0" ; + gpml:connectorType "Straight" ; + gpml:graphId "feac7" ; + gpml:hasPoint , ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:zorder "33075"^^xsd:long . + + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "f9082" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "1.0"^^xsd:double ; + gpml:x "1079.3618602992344"^^xsd:double ; + gpml:y "920.8476230441051"^^xsd:double . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "739.1041486603274"^^xsd:double ; - gpml:centerY "378.1002592912707"^^xsd:double ; - gpml:color "990000" ; + gpml:centerX "825.0310559006213"^^xsd:double ; + gpml:centerY "1030.0"^^xsd:double ; + gpml:color "0" ; + gpml:fillColor "ffffff" ; + gpml:fontDecoration "Normal" ; + gpml:fontName "Arial" ; + gpml:fontSize "12.0"^^xsd:double ; + gpml:fontStrikethru "Normal" ; + gpml:fontStyle "Normal" ; + gpml:fontWeight "Normal" ; + gpml:graphId "ae67b" ; + gpml:height "25.0"^^xsd:double ; + gpml:lineStyle "Solid" ; + gpml:lineThickness "1.0"^^xsd:double ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "p47" ; + gpml:type "Protein" ; + gpml:valign "Middle" ; + gpml:width "90.0"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "P08567" ; + gpml:zorder "33398"^^xsd:long . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf , ; + gpml:align "Center" ; + gpml:centerX "960.9172941350464"^^xsd:double ; + gpml:centerY "990.7101004153354"^^xsd:double ; + gpml:color "0" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "c475a" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "cd565" ; + gpml:groupRef "b7d9d" ; + gpml:height "24.99999999999994"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "PRKN" ; - gpml:type "GeneProduct" ; + gpml:textlabel "SASK1" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000185345" ; - gpml:zorder "33182"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Glucocorticoid deficiency type 5" . + gpml:width "96.95437415472593"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "" ; + gpml:zorder "33401"^^xsd:long . - + rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:color "0" ; gpml:connectorType "Straight" ; - gpml:graphId "bf461" ; - gpml:hasPoint , ; + gpml:graphId "c3221" ; + gpml:hasPoint , ; gpml:lineStyle "Broken" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33352"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "c2c2b" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1049.434782608696"^^xsd:double ; - gpml:y "647.8755259942994"^^xsd:double . + gpml:zorder "33281"^^xsd:long . - + rdf:type gpml:DataNode ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "535.5"^^xsd:double ; - gpml:centerY "406.0"^^xsd:double ; + gpml:centerX "195.05376537616456"^^xsd:double ; + gpml:centerY "609.8991596638649"^^xsd:double ; gpml:color "990000" ; gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; @@ -9814,76 +9858,25 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Bold" ; - gpml:graphId "d9be1" ; + gpml:graphId "d775d" ; gpml:height "25.0"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "Rectangle" ; - gpml:textlabel "STAT2" ; + gpml:textlabel "PPA2" ; gpml:type "GeneProduct" ; gpml:valign "Middle" ; gpml:width "90.0"^^xsd:double ; gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000170581" ; - gpml:zorder "33147"^^xsd:long . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Axonal Charcot-Marie-Tooth disease type 2A2A" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "X-linked mental retardation type 99" . - - - rdf:type gpml:Comment ; - dcterms:isPartOf ; - gpml:commentText "Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" . - - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "e9b7b" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33342"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "a38b8" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939114"^^xsd:double ; - gpml:y "609.9169978395636"^^xsd:double . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "fb446" ; - gpml:relX "1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1709.8804197939116"^^xsd:double ; - gpml:y "524.4664808528587"^^xsd:double . - - - rdf:type gpml:Group ; - dcterms:isPartOf ; - gpml:graphId "b7b26" ; - gpml:groupId "c3110" ; - gpml:style "Group" . + gpml:xrefId "ENSG00000138777" ; + gpml:zorder "33186"^^xsd:long . - + rdf:type gpml:Label ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1485.93086306829"^^xsd:double ; - gpml:centerY "138.1874846657468"^^xsd:double ; + gpml:centerX "1820.7563887861606"^^xsd:double ; + gpml:centerY "359.628751283582"^^xsd:double ; gpml:color "ff" ; gpml:fillColor "ffcccc" ; gpml:fontDecoration "Normal" ; @@ -9892,24 +9885,24 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "fcaf6" ; - gpml:hasComment , ; - gpml:height "25.000000000000004"^^xsd:double ; - gpml:href "https://omim.org/entry/617228" ; + gpml:graphId "f32bc" ; + gpml:hasComment ; + gpml:height "25.0"^^xsd:double ; + gpml:href "https://omim.org/entry/609260" ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "COXPD31" ; + gpml:textlabel "CMT2A2A" ; gpml:valign "Middle" ; - gpml:width "110.11627906976739"^^xsd:double ; - gpml:zorder "33289"^^xsd:long . + gpml:width "110.11627906976729"^^xsd:double ; + gpml:zorder "33247"^^xsd:long . - + rdf:type gpml:shape ; - dcterms:isPartOf ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "386.09334485739083"^^xsd:double ; - gpml:centerY "402.204624027659"^^xsd:double ; + gpml:centerX "1256.22641509434"^^xsd:double ; + gpml:centerY "400.5660377358491"^^xsd:double ; gpml:color "0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; @@ -9917,123 +9910,130 @@ gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; gpml:fontWeight "Normal" ; - gpml:graphId "da1b9" ; - gpml:height "162.8681936041484"^^xsd:double ; + gpml:graphId "d7991" ; + gpml:height "667.9245283018867"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; gpml:shape "0.0"^^xsd:double ; gpml:shapeType "RoundedRectangle" ; gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "115.81676750216083"^^xsd:double ; - gpml:zorder "33169"^^xsd:long . + gpml:width "628.3018867924535"^^xsd:double ; + gpml:zorder "33347"^^xsd:long . - - rdf:type gpml:Label ; - dcterms:isPartOf ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "b502b" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1429.5519688164254"^^xsd:double ; + gpml:y "714.398921832883"^^xsd:double . + + + rdf:type gpml:DataNode ; + dcterms:isPartOf , ; gpml:align "Center" ; - gpml:centerX "1820.4166546650385"^^xsd:double ; - gpml:centerY "571.2250321854178"^^xsd:double ; - gpml:color "ff" ; - gpml:fillColor "ffcccc" ; + gpml:centerX "496.0650935200687"^^xsd:double ; + gpml:centerY "947.8897084809888"^^xsd:double ; + gpml:color "990000" ; + gpml:fillColor "ffffff" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "12.0"^^xsd:double ; + gpml:fontSize "16.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Normal" ; - gpml:graphId "f5f9b" ; - gpml:hasComment , ; - gpml:height "25.0"^^xsd:double ; - gpml:href "https://omim.org/entry/616505" ; + gpml:fontWeight "Bold" ; + gpml:graphId "eafc8" ; + gpml:groupRef "c3ba6" ; + gpml:height "24.999999999999968"^^xsd:double ; gpml:lineStyle "Solid" ; gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "RoundedRectangle" ; - gpml:textlabel "HMSN6B" ; + gpml:shapeType "Rectangle" ; + gpml:textlabel "VCP" ; + gpml:type "Protein" ; gpml:valign "Middle" ; - gpml:width "110.11627906976729"^^xsd:double ; - gpml:zorder "33236"^^xsd:long . + gpml:width "96.95437415472591"^^xsd:double ; + gpml:xrefDataSource "Uniprot-TrEMBL" ; + gpml:xrefId "P55072" ; + gpml:zorder "33395"^^xsd:long . - - rdf:type gpml:GraphicalLine ; - dcterms:isPartOf ; - gpml:color "0" ; - gpml:connectorType "Straight" ; - gpml:graphId "cc40d" ; - gpml:hasPoint , ; - gpml:lineStyle "Broken" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:zorder "33390"^^xsd:long . + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "dbd7e" ; + gpml:relX "-1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1108.9449333447471"^^xsd:double ; + gpml:y "404.4257992633706"^^xsd:double . + + + rdf:type gpml:Comment ; + dcterms:isPartOf ; + gpml:commentText "Mohr-Tranebjaerg syndrome" . - + rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "e1971" ; - gpml:relX "-0.5"^^xsd:double ; - gpml:relY "1.0"^^xsd:double ; - gpml:x "278.81932773109236"^^xsd:double ; - gpml:y "700.9404690146097"^^xsd:double . + dcterms:isPartOf , ; + gpml:graphRef "cc4e5" ; + gpml:relX "0.0"^^xsd:double ; + gpml:relY "-1.0"^^xsd:double ; + gpml:x "145.0255102040819"^^xsd:double ; + gpml:y "884.4801038295545"^^xsd:double . - - rdf:type gpml:DataNode ; - dcterms:isPartOf , ; + + rdf:type gpml:Point ; + dcterms:isPartOf , ; + gpml:graphRef "d1d50" ; + gpml:relX "1.0"^^xsd:double ; + gpml:relY "0.0"^^xsd:double ; + gpml:x "1366.3817486860962"^^xsd:double ; + gpml:y "567.6411494489925"^^xsd:double . + + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "1132.8314843537235"^^xsd:double ; - gpml:centerY "990.4357750914616"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "377.13954341560066"^^xsd:double ; + gpml:centerY "183.52051360790466"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "f56f9" ; - gpml:groupRef "a7bc4" ; - gpml:height "25.00000000000001"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "e8c46" ; + gpml:height "11.290407690665027"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "MFN2" ; - gpml:type "GeneProduct" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "6.082873981742219"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000116688" ; - gpml:zorder "33405"^^xsd:long . + gpml:width "70.89191721537954"^^xsd:double ; + gpml:zorder "33097"^^xsd:long . - - rdf:type gpml:DataNode ; - dcterms:isPartOf ; + + rdf:type gpml:shape ; + dcterms:isPartOf ; gpml:align "Center" ; - gpml:centerX "114.0"^^xsd:double ; - gpml:centerY "387.0"^^xsd:double ; - gpml:color "990000" ; - gpml:fillColor "ffffff" ; + gpml:centerX "587.6224988014437"^^xsd:double ; + gpml:centerY "236.29410515891203"^^xsd:double ; + gpml:color "c0c0c0" ; gpml:fontDecoration "Normal" ; gpml:fontName "Arial" ; - gpml:fontSize "16.0"^^xsd:double ; + gpml:fontSize "12.0"^^xsd:double ; gpml:fontStrikethru "Normal" ; gpml:fontStyle "Normal" ; - gpml:fontWeight "Bold" ; - gpml:graphId "c0673" ; - gpml:height "25.0"^^xsd:double ; + gpml:fontWeight "Normal" ; + gpml:graphId "c1031" ; + gpml:height "8.598352231477302"^^xsd:double ; gpml:lineStyle "Solid" ; - gpml:lineThickness "1.0"^^xsd:double ; - gpml:shapeType "Rectangle" ; - gpml:textlabel "HSPA9" ; - gpml:type "GeneProduct" ; + gpml:lineThickness "3.0"^^xsd:double ; + gpml:shape "5.494427142396818"^^xsd:double ; + gpml:shapeType "Mitochondria" ; + gpml:textlabel "" ; gpml:valign "Middle" ; - gpml:width "90.0"^^xsd:double ; - gpml:xrefDataSource "Ensembl" ; - gpml:xrefId "ENSG00000113013" ; - gpml:zorder "33125"^^xsd:long . - - - rdf:type gpml:Point ; - dcterms:isPartOf , ; - gpml:graphRef "cdeb9" ; - gpml:relX "-1.0"^^xsd:double ; - gpml:relY "0.0"^^xsd:double ; - gpml:x "1424.4576291937838"^^xsd:double ; - gpml:y "781.4400705850414"^^xsd:double . + gpml:width "32.82927389901314"^^xsd:double ; + gpml:zorder "33162"^^xsd:long .