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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 |
|---|---|---|---|---|---|
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C3714772 | Recurrent fevers | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0162309 | Adrenoleukodystrophy | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0014175 | Endometriosis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0221757 | alpha 1-Antitrypsin Deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0009324 | Ulcerative Colitis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0001618 | Tumors of Adrenal Cortex | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0018418 | Gynecomastia | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0020615 | Hypoglycemia | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0268337 | Ehlers-Danlos syndrome, type 3 (disorder) | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0011849 | Diabetes Mellitus | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0020555 | Hypertrichosis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0018213 | Graves Disease | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0011847 | Diabetes | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1859995 | Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0008312 | Primary biliary cirrhosis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0025517 | Metabolic Diseases | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0001624 | Adrenal Gland Neoplasms | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0343804 | Chronic Chagas' disease | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0001623 | Adrenal gland hypofunction | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C2752038 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0151779 | Cutaneous Melanoma | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0405580 | Adrenal cortical hypofunction | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
