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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 |
|---|---|---|---|---|---|
| C0020433 | Hyperbilirubinemia | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0020433 | Hyperbilirubinemia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0020433 | Hyperbilirubinemia | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0020433 | Hyperbilirubinemia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0020433 | Hyperbilirubinemia | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0020428 | Hyperaldosteronism | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0020428 | Hyperaldosteronism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0020428 | Hyperaldosteronism | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0020428 | Hyperaldosteronism | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0020428 | Hyperaldosteronism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0020428 | Hyperaldosteronism | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0020428 | Hyperaldosteronism | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0020428 | Hyperaldosteronism | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0020428 | Hyperaldosteronism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020428 | Hyperaldosteronism | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C0020302 | Hydrophthalmos | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0020302 | Hydrophthalmos | FKTN | 2218 | fukutin | O75072 |
| C0020302 | Hydrophthalmos | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0020302 | Hydrophthalmos | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0020302 | Hydrophthalmos | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0020302 | Hydrophthalmos | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0020302 | Hydrophthalmos | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0020302 | Hydrophthalmos | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0020302 | Hydrophthalmos | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0020302 | Hydrophthalmos | DAG1 | 1605 | dystroglycan 1 | Q14118 |
