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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 |
|---|---|---|---|---|---|
| C0917796 | Optic Atrophy, Hereditary, Leber | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0917796 | Optic Atrophy, Hereditary, Leber | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0917796 | Optic Atrophy, Hereditary, Leber | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0917796 | Optic Atrophy, Hereditary, Leber | CAT | 847 | catalase | P04040 |
| C0917796 | Optic Atrophy, Hereditary, Leber | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0917798 | Cerebral Ischemia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0917798 | Cerebral Ischemia | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0917798 | Cerebral Ischemia | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0917798 | Cerebral Ischemia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0917798 | Cerebral Ischemia | CAT | 847 | catalase | P04040 |
| C0917798 | Cerebral Ischemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0917798 | Cerebral Ischemia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0917799 | Hypersomnia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0917799 | Hypersomnia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0917799 | Hypersomnia | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0917799 | Hypersomnia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0917799 | Hypersomnia | LGALS3 | 3958 | galectin 3 | P17931 |
| C0917799 | Hypersomnia | PRNP | 5621 | prion protein | P04156 |
| C0917799 | Hypersomnia | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0917799 | Hypersomnia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0917804 | Arteriovenous Malformations, Cerebral | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0917805 | Transient Cerebral Ischemia | GLA | 2717 | galactosidase alpha | P06280 |
| C0917805 | Transient Cerebral Ischemia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0917805 | Transient Cerebral Ischemia | FCN1 | 2219 | ficolin 1 | O00602 |
| C0917805 | Transient Cerebral Ischemia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
