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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0346255 | Oncocytoma, renal | SDC1 | 6382 | syndecan 1 | P18827 |
| 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 |
| C0029001 | Onchocerciasis | CALR | 811 | calreticulin | P27797 |
| C0029001 | Onchocerciasis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1850318 | Omodysplasia type 1 | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C4510897 | Omodysplasia | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C4510897 | Omodysplasia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2700553 | Omenn Syndrome | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
