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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 |
|---|---|---|---|---|---|
| C0234535 | Clonic Seizures | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0270844 | Tonic Seizures | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0234533 | Generalized seizures | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0206081 | Hyperandrogenism | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C2239176 | Liver carcinoma | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0751495 | Seizures, Focal | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0149940 | Sciatic Neuropathy | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0015625 | Fanconi Anemia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0014173 | Endometrial Hyperplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0016034 | Breast Fibrocystic Disease | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0001430 | Adenoma | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0036875 | Disorders of Sex Development | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0008354 | Cholera | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0015934 | Fetal Growth Retardation | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0002395 | Alzheimer's Disease | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0020456 | Hyperglycemia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0020428 | Hyperaldosteronism | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0038220 | Status Epilepticus | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1384583 | Congenital absence of germinal epithelium of testes | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0270824 | Visual seizure | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0006142 | Malignant neoplasm of breast | CYB5R4 | 51167 | cytochrome b5 reductase 4 | Q7L1T6 |
| C0342276 | Maturity onset diabetes mellitus in young | CYB5R4 | 51167 | cytochrome b5 reductase 4 | Q7L1T6 |
| C0011847 | Diabetes | CYB5R4 | 51167 | cytochrome b5 reductase 4 | Q7L1T6 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | CYB5R4 | 51167 | cytochrome b5 reductase 4 | Q7L1T6 |
| C0085207 | Gestational Diabetes | CYB5R4 | 51167 | cytochrome b5 reductase 4 | Q7L1T6 |
