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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0346255 | Oncocytoma, renal | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0346255 | Oncocytoma, renal | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0751401 | Ophthalmoparesis | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751401 | Ophthalmoparesis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751401 | Ophthalmoparesis | AGRN | 375790 | agrin | O00468 |
| C0751401 | Ophthalmoparesis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0029089 | Ophthalmoplegia | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0029089 | Ophthalmoplegia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0029089 | Ophthalmoplegia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0029089 | Ophthalmoplegia | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0029089 | Ophthalmoplegia | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0029089 | Ophthalmoplegia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0029089 | Ophthalmoplegia | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0029089 | Ophthalmoplegia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0029089 | Ophthalmoplegia | AGRN | 375790 | agrin | O00468 |
| C0029089 | Ophthalmoplegia | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0029089 | Ophthalmoplegia | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0029089 | Ophthalmoplegia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0029089 | Ophthalmoplegia | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0029089 | Ophthalmoplegia | GPC1 | 2817 | glypican 1 | P35052 |
| C0029089 | Ophthalmoplegia | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C0029089 | Ophthalmoplegia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0029089 | Ophthalmoplegia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0029089 | Ophthalmoplegia | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0524662 | Opiate Addiction | COMT | 1312 | catechol-O-methyltransferase | P21964 |
