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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 |
|---|---|---|---|---|---|
| C0302280 | Adrenogenital Syndrome | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0302280 | Adrenogenital Syndrome | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0302280 | Adrenogenital Syndrome | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0701163 | Adrenogenital disorder | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0162309 | Adrenoleukodystrophy | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0162309 | Adrenoleukodystrophy | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0162309 | Adrenoleukodystrophy | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0162309 | Adrenoleukodystrophy | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0162309 | Adrenoleukodystrophy | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0162309 | Adrenoleukodystrophy | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0162309 | Adrenoleukodystrophy | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0162309 | Adrenoleukodystrophy | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0162309 | Adrenoleukodystrophy | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0162309 | Adrenoleukodystrophy | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0162309 | Adrenoleukodystrophy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0162309 | Adrenoleukodystrophy | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0162309 | Adrenoleukodystrophy | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C0162309 | Adrenoleukodystrophy | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
| C0162309 | Adrenoleukodystrophy | NCAN | 1463 | neurocan | O14594 |
| C0162309 | Adrenoleukodystrophy | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0162309 | Adrenoleukodystrophy | ACSBG1 | 23205 | acyl-CoA synthetase bubblegum family member 1 | Q96GR2 |
| C0162309 | Adrenoleukodystrophy | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0162309 | Adrenoleukodystrophy | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0162309 | Adrenoleukodystrophy | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0162309 | Adrenoleukodystrophy | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
