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1 change: 1 addition & 0 deletions _data/WP477-bibliography.tsv
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ID Database Citation
11875025 Pubmed "The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. Yoshihama M, Uechi T, Asakawa S, Kawasaki K, Kato S, Higa S, et al. Genome Res. 2002 Mar;12(3):379–90. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/11875025"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/11875025"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/11875025"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
143 changes: 72 additions & 71 deletions _data/WP477-datanodes.tsv

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1 change: 1 addition & 0 deletions _data/WP4815-bibliography.tsv
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ID Database Citation
hsa00531 KEGG Pathway
27217160 Pubmed "Drugs affecting glycosaminoglycan metabolism. Ghiselli G, Maccarana M. Drug Discov Today. 2016 Jul;21(7):1162–9. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/27217160"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/27217160"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/27217160"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
5 changes: 5 additions & 0 deletions _data/WP5506-bibliography.tsv
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ID Database Citation
3061454 Pubmed "Equilibrium of 5,6-hydration of NADH and mechanism of ATP-dependent dehydration. Acheson SA, Kirkman HN, Wolfenden R. Biochemistry. 1988 Sep 20;27(19):7371–5. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/3061454"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/3061454"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/3061454"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
30576410 Pubmed "NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, et al. Brain. 2019 Jan 1;142(1):50–8. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/30576410"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/30576410"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/30576410"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
31883644 Pubmed "Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, et al. Am J Hum Genet. 2020 Jan 2;106(1):129–36. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/31883644"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/31883644"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/31883644"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
35637064 Pubmed "NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, et al. Mol Genet Metab. 2022 Jun;136(2):101–10. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/35637064"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/35637064"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/35637064"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
16 changes: 16 additions & 0 deletions _data/WP5506-datanodes.tsv
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Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI PubChem ChemSpider HMDB KEGG LipidMaps
NAD(+) Metabolite chebi:15846 "" wikidata:Q26987253 chebi:15846 inchikey:BAWFJGJZGIEFAR-NNYOXOHSSA-O pubchem.compound:5893 chemspider:5682 hmdb:HMDB0000902 kegg.compound:C00003
deamido-NAD(+) Metabolite chebi:18304 "nicotinate adenine dinucleotide" wikidata:Q28529688 chebi:18304 inchikey:SENPVEZBRZQVST-HISDBWNOSA-O pubchem.compound:165491 chemspider:145043 hmdb:HMDB0001179 kegg.compound:C00857
NADH Metabolite chebi:16908 "" wikidata:Q26987453 chebi:16908 inchikey:BOPGDPNILDQYTO-NNYOXOHSSA-N pubchem.compound:439153 chemspider:903;chemspider:388299 hmdb:HMDB0001487 kegg.compound:C00004
(S)-NADHX Metabolite chebi:44236 "" wikidata:Q27120544 chebi:44236 inchikey:IDBZKGQRLBFUFQ-VPHRTNKSSA-N pubchem.compound:440516 chemspider:389428 hmdb:HMDB0059644 kegg.compound:C04856
(R)-NADHX Metabolite chebi:134125 "" wikidata:Q106029801 chebi:134125 inchikey:IDBZKGQRLBFUFQ-MTKBYBFRSA-N pubchem.compound:56927861 kegg.compound:C20482
cyclo-NADHX Metabolite inchikey:XHATZBPBVXWMQQ-GGFUHNOESA-N "SMILES NC(=O)C1=CN2C(CC1)OC1C2O[C@H](COP(=O)(O)OP(=O)(O)OC[C@H]2O[C@@H](n3cnc4c(N)ncnc43)[C@H](O)[C@@H]2O)[C@H]1O"
nicotamide Metabolite chebi:17154 "nicotinate adenine dinucleotide" wikidata:Q192423 chebi:17154 inchikey:DFPAKSUCGFBDDF-UHFFFAOYSA-N pubchem.compound:936 chemspider:911 hmdb:HMDB0001406 kegg.compound:C00153
ADP-D-ribose Metabolite chebi:16960 "nicotinate adenine dinucleotide" wikidata:Q61416 chebi:16960 inchikey:SRNWOUGRCWSEMX-TYASJMOZSA-N;inchikey:SRNWOUGRCWSEMX-UHFFFAOYSA-N pubchem.compound:33576;pubchem.compound:192 chemspider:187 hmdb:HMDB0001178 kegg.compound:C00301
cyclic ADP-D-ribose Metabolite chebi:31445 "nicotinate adenine dinucleotide" wikidata:Q2467043 chebi:31445 inchikey:BQOHYSXSASDCEA-KEOHHSTQSA-N pubchem.compound:123847 chemspider:21403087 kegg.compound:C13050
NMN(+) Metabolite chebi:14648 "nicotinate mononucleotide" wikidata:Q27108984 chebi:14648 inchikey:DAYLJWODMCOQEW-TURQNECASA-O pubchem.compound:14181 chemspider:13554 hmdb:HMDB0000229 kegg.compound:C00455
NAD(P)HX epimerase GeneProduct ensembl:ENSG00000163382 "" ensembl:ENSG00000163382 ncbigene:128240 hgnc.symbol:NAXE uniprot:Q5T3I4;uniprot:Q5T3I3;uniprot:A0A7P0Z426;uniprot:A0A7P0TA18;uniprot:A0A7P0TAG8;uniprot:Q8NCW5;uniprot:A0A7P0T9Y2
NADSYNTHETASE 1 GeneProduct ensembl:ENSG00000172890 "" ensembl:ENSG00000172890 ncbigene:55191 hgnc.symbol:NADSYN1 uniprot:H0YDH3;uniprot:E9PKY6;uniprot:E9PND0;uniprot:H0YCF9;uniprot:Q6IA69;uniprot:E9PNF5;uniprot:H0YCQ6;uniprot:H0YED2;uniprot:A0A0B4J216
NAD(P)HX DEHYDRATASE GeneProduct ensembl:ENSG00000213995 "" ensembl:ENSG00000213995 ncbigene:55739 hgnc.symbol:NAXD uniprot:A0A7P0T9D8;uniprot:A0A7P0T906;uniprot:A0A7P0TAU0;uniprot:A0A024RDX4;uniprot:Q8IW45;uniprot:A0A7P0T9R3
CD38 GeneProduct ensembl:ENSG00000004468 "" ensembl:ENSG00000004468 ncbigene:952 hgnc.symbol:CD38 uniprot:P28907;uniprot:H0Y950
BST GeneProduct ensembl:ENSG00000109743 "" ensembl:ENSG00000109743 ncbigene:683 hgnc.symbol:BST1 uniprot:Q10588;uniprot:H0Y9Q9;uniprot:A6NC48;uniprot:H0Y8G4;uniprot:H0Y984
2 changes: 2 additions & 0 deletions _data/WP5507-bibliography.tsv
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ID Database Citation
32296576 Pubmed "Metabolic reprogramming in triple-negative breast cancer. Wang Z, Jiang Q, Dong C. Cancer Biol Med. 2020 Feb 15;17(1):44–59. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/32296576"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/32296576"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/32296576"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
11 changes: 11 additions & 0 deletions _data/WP5507-datanodes.tsv
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Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI PubChem ChemSpider HMDB KEGG LipidMaps
H+ Metabolite chebi:24636 "" wikidata:Q2294 chebi:24636 inchikey:GPRLSGONYQIRFK-FTGQXOHASA-N pubchem.compound:5460653 kegg.compound:C00080
glutamate Metabolite pubchem.compound:33032 "" wikidata:Q26995161 chebi:16015 inchikey:WHUUTDBJXJRKMK-VKHMYHEASA-N pubchem.compound:44272391;pubchem.compound:88747398;pubchem.compound:33032 chemspider:30572 hmdb:HMDB0000148 kegg.compound:C00025
aspartate Metabolite chebi:29995 "" wikidata:Q27110362 chebi:29995 inchikey:CKLJMWTZIZZHCS-UHFFFAOYSA-L pubchem.compound:4519554 chemspider:3714789
oxaloacetate Metabolite hmdb:HMDB0000223 "" chebi:30744 inchikey:KHPXUQMNIQBQEV-UHFFFAOYSA-N pubchem.compound:970 chemspider:945 hmdb:HMDB0000223 kegg.compound:C00036
2-oxoglutarate Metabolite hmdb:HMDB0000208 "" chebi:30915 inchikey:KPGXRSRHYNQIFN-UHFFFAOYSA-N pubchem.compound:51 chemspider:50 hmdb:HMDB0000208 kegg.compound:C00026
GOT2 GeneProduct ensembl:ENSG00000125166 "" ensembl:ENSG00000125166 ncbigene:2806 hgnc.symbol:GOT2 uniprot:H3BRE7;uniprot:P00505
SLC25A22 GeneProduct ensembl:ENSG00000177542 "Mitochondrial membrane transporter" ensembl:ENSG00000177542 ncbigene:79751 hgnc.symbol:SLC25A22 uniprot:K4DIB0;uniprot:E9PI74;uniprot:A0A0D9SG84;uniprot:K4DIB4;uniprot:K4DIA2;uniprot:K4DIB3;uniprot:E9PS95;uniprot:K4DIB8;uniprot:A0A0D9SFA8;uniprot:K4DIB6;uniprot:Q9H936;uniprot:A0A0A6YYN8;uniprot:E9PQ36;uniprot:K4DIA8;uniprot:A0A0D9SEI9;uniprot:E9PJH7;uniprot:A0A0D9SFE1;uniprot:E9PJY0
SLC25A12 GeneProduct ensembl:ENSG00000115840 "Mitochondrial membrane transporter" ensembl:ENSG00000115840 ncbigene:8604 hgnc.symbol:SLC25A12 uniprot:B4DGK6;uniprot:H0YFB2;uniprot:F8W9J0;uniprot:O75746
SLC25A13 GeneProduct ensembl:ENSG00000004864 "Mitochondrial membrane transporter" ensembl:ENSG00000004864 ncbigene:10165 hgnc.symbol:SLC25A13 uniprot:R4GN64;uniprot:Q9UJS0
GLUD1 GeneProduct ensembl:ENSG00000148672 "" ensembl:ENSG00000148672 ncbigene:2746 hgnc.symbol:GLUD1 uniprot:A0A804HJD7;uniprot:P00367;uniprot:A0A804HHS2;uniprot:A0A804HIA0;uniprot:A0A804HLC0;uniprot:A0A804HJH3;uniprot:A0A804HHU3;uniprot:A0A804HKE0;uniprot:A0A804HJZ0;uniprot:E9KL48
8 changes: 4 additions & 4 deletions _pathways/WP4290.md
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---
annotations:
- id: PW:0000605
parent: disease pathway
type: Pathway Ontology
value: cancer pathway
- id: DOID:9256
parent: disease of cellular proliferation
type: Disease Ontology
value: colorectal cancer
- id: PW:0000605
parent: disease pathway
type: Pathway Ontology
value: cancer pathway
- id: PW:0000305
parent: classic metabolic pathway
type: Pathway Ontology
Expand Down
8 changes: 4 additions & 4 deletions _pathways/WP4705.md
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---
annotations:
- id: PW:0000819
parent: signaling pathway
type: Pathway Ontology
value: signaling pathway in the innate immune response
- id: PW:0000292
parent: regulatory pathway
type: Pathway Ontology
value: altered DNA repair pathway
- id: PW:0000819
parent: signaling pathway
type: Pathway Ontology
value: signaling pathway in the innate immune response
authors:
- DeSl
- MaintBot
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8 changes: 5 additions & 3 deletions _pathways/WP477.md
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Expand Up @@ -12,6 +12,7 @@ authors:
- Christine Chichester
- AlexanderPico
- Eweitz
- Egonw
citedin:
- link: PMC8860091
title: The m6A(m)-independent role of FTO in regulating WNT signaling pathways (2022)
Expand Down Expand Up @@ -54,15 +55,15 @@ communities:
description: The contents of this pathway represents the ribosomal proteins involved
in translation. Proteins on this pathway have targeted assays available via the
[https://assays.cancer.gov/available_assays?wp_id=WP477 CPTAC Assay Portal]
last-edited: 2021-05-16
last-edited: 2024-12-21
ndex: e5708649-8b60-11eb-9e72-0ac135e8bacf
organisms:
- Homo sapiens
redirect_from:
- /index.php/Pathway:WP477
- /instance/WP477
- /instance/WP477_r117044
revision: r117044
- /instance/WP477_r136165
revision: r136165
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP477.html
Expand Down Expand Up @@ -161,6 +162,7 @@ schema-jsonld:
- RPS8
- RPS9
- RPSA
- Small (40S) Subunit
- UBA52
license: CC0
name: Cytoplasmic ribosomal proteins
Expand Down
34 changes: 17 additions & 17 deletions _pathways/WP4784.md
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@@ -1,12 +1,18 @@
---
annotations:
- id: DOID:0060462
- id: DOID:0050690
type: Disease Ontology
value: Desbuquois dysplasia
- id: DOID:0080055
value: brachyolmia
- id: DOID:0050648
type: Disease Ontology
value: atelosteogenesis
- id: DOID:0070302
parent: genetic disease
type: Disease Ontology
value: achondrogenesis type IB
value: multiple epiphyseal dysplasia 7
- id: DOID:0060462
type: Disease Ontology
value: Desbuquois dysplasia
- id: DOID:14743
parent: genetic disease
type: Disease Ontology
Expand All @@ -15,28 +21,22 @@ annotations:
parent: genetic disease
type: Disease Ontology
value: multiple epiphyseal dysplasia 4
- id: DOID:0070302
parent: genetic disease
type: Disease Ontology
value: multiple epiphyseal dysplasia 7
- id: DOID:206
- id: DOID:14687
parent: genetic disease
type: Disease Ontology
value: hereditary multiple exostoses
value: diastrophic dysplasia
- id: PW:0000002
parent: classic metabolic pathway
type: Pathway Ontology
value: classic metabolic pathway
- id: DOID:14687
- id: DOID:206
parent: genetic disease
type: Disease Ontology
value: diastrophic dysplasia
- id: DOID:0050648
type: Disease Ontology
value: atelosteogenesis
- id: DOID:0050690
value: hereditary multiple exostoses
- id: DOID:0080055
parent: genetic disease
type: Disease Ontology
value: brachyolmia
value: achondrogenesis type IB
authors:
- Rlee
- Khanspers
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4 changes: 2 additions & 2 deletions _pathways/WP4815.md
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Expand Up @@ -31,8 +31,8 @@ organisms:
redirect_from:
- /index.php/Pathway:WP4815
- /instance/WP4815
- /instance/WP4815_r136161
revision: r136161
- /instance/WP4815_r136166
revision: r136166
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP4815.html
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8 changes: 4 additions & 4 deletions _pathways/WP5504.md
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@@ -1,13 +1,13 @@
---
annotations:
- id: PW:0001669
parent: disease pathway
type: Pathway Ontology
value: mitochondrial disease pathway
- id: PW:0000013
parent: disease pathway
type: Pathway Ontology
value: disease pathway
- id: PW:0001669
parent: disease pathway
type: Pathway Ontology
value: mitochondrial disease pathway
authors:
- Egonw
- DeSl
Expand Down
52 changes: 52 additions & 0 deletions _pathways/WP5506.md
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---
annotations:
- id: PW:0000013
parent: disease pathway
type: Pathway Ontology
value: disease pathway
authors:
- Mareknoga
- Egonw
citedin: ''
communities:
- MetaKids
description: 'Disorders of Niacin and NAD Metabolism '
last-edited: 2024-12-21
ndex: null
organisms:
- Homo sapiens
redirect_from:
- /index.php/Pathway:WP5506
- /instance/WP5506
- /instance/WP5506_r136162
revision: r136162
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP5506.html
'@type': Dataset
creator:
'@type': Organization
name: WikiPathways
description: 'Disorders of Niacin and NAD Metabolism '
keywords:
- ' ADP-D-ribose'
- ' NMN(+)'
- ' cyclic ADP-D-ribose'
- (R)-NADHX
- (S)-NADHX
- BST
- CD38
- NAD(+)
- NAD(P)HX DEHYDRATASE
- NAD(P)HX epimerase
- NADH
- NADSYNTHETASE 1
- cyclo-NADHX
- deamido-NAD(+)
- nicotamide
license: CC0
name: Disorders of NAD metabolism
seo: CreativeWork
title: Disorders of NAD metabolism
wpid: WP5506
---
80 changes: 80 additions & 0 deletions _pathways/WP5507.md
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---
annotations:
- id: PW:0000440
parent: classic metabolic pathway
type: Pathway Ontology
value: glycine metabolic pathway
- id: PW:0000011
parent: classic metabolic pathway
type: Pathway Ontology
value: amino acid metabolic pathway
- id: PW:0000013
parent: disease pathway
type: Pathway Ontology
value: disease pathway
- id: DOID:1612
parent: disease of cellular proliferation
type: Disease Ontology
value: breast cancer
- id: PW:0001086
parent: classic metabolic pathway
type: Pathway Ontology
value: glutamine metabolic pathway
- id: DOID:0060081
parent: disease of cellular proliferation
type: Disease Ontology
value: triple-receptor negative breast cancer
- id: PW:0000605
parent: disease pathway
type: Pathway Ontology
value: cancer pathway
- id: PW:0001084
parent: classic metabolic pathway
type: Pathway Ontology
value: serine metabolic pathway
- id: DOID:9252
parent: genetic disease
type: Disease Ontology
value: amino acid metabolic disorder
authors:
- Daanvanbeek
citedin: ''
communities:
- MetaKids
description: Reflecting the pathway as shown in Figure 43.2 of Blau et al. "Physician’s
guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases"
last-edited: 2024-12-21
ndex: null
organisms:
- Homo sapiens
redirect_from:
- /index.php/Pathway:WP5507
- /instance/WP5507
- /instance/WP5507_r136142
revision: r136142
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP5507.html
'@type': Dataset
creator:
'@type': Organization
name: WikiPathways
description: Reflecting the pathway as shown in Figure 43.2 of Blau et al. "Physician’s
guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases"
keywords:
- 2-oxoglutarate
- GLUD1
- GOT2
- H+
- SLC25A12
- SLC25A13
- SLC25A22
- aspartate
- glutamate
- oxaloacetate
license: CC0
name: Mitochondrial carrier deficiency associated with shuttle disturbances
seo: CreativeWork
title: Mitochondrial carrier deficiency associated with shuttle disturbances
wpid: WP5507
---
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