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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 | 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 |
| C0338508 | Optic Atrophy 1 | TREH | 11181 | trehalase | O43280 |
| C0338508 | Optic Atrophy 1 | ACO2 | 50 | aconitase 2 | Q99798 |
| C0338508 | Optic Atrophy 1 | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C0338508 | Optic Atrophy 1 | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0338508 | Optic Atrophy 1 | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0338508 | Optic Atrophy 1 | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0338508 | Optic Atrophy 1 | DGKG | 1608 | diacylglycerol kinase gamma | P49619 |
| C0338508 | Optic Atrophy 1 | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0338508 | Optic Atrophy 1 | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0029124 | Optic Atrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0029124 | Optic Atrophy | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0029124 | Optic Atrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0029124 | Optic Atrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0029124 | Optic Atrophy | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0029124 | Optic Atrophy | FKTN | 2218 | fukutin | O75072 |
| C0029124 | Optic Atrophy | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0029124 | Optic Atrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0029124 | Optic Atrophy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0029124 | Optic Atrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0029124 | Optic Atrophy | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0029124 | Optic Atrophy | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0029124 | Optic Atrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
