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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 |
|---|---|---|---|---|---|
| C0036875 | Disorders of Sex Development | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0023452 | Childhood Acute Lymphoblastic Leukemia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0011849 | Diabetes Mellitus | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0023895 | Liver diseases | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0014175 | Endometriosis | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0178879 | Urinary tract obstruction | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0018051 | Gonadal Dysgenesis | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0403766 | Acquired phimosis | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C1739363 | Prostatic Hypertrophy | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2678038 | Alopecia, Androgenetic, 2 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C1856127 | Bile acid synthesis defect, congenital, 2 | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0019158 | Hepatitis | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0011849 | Diabetes Mellitus | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0000768 | Congenital Abnormality | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0019159 | Hepatitis A | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0392514 | Hereditary hemochromatosis | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0029456 | Osteoporosis | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0023895 | Liver diseases | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0024523 | Malabsorption Syndrome | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0027051 | Myocardial Infarction | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0008372 | Intrahepatic Cholestasis | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0005779 | Blood Coagulation Disorders | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C2711227 | Steatohepatitis | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0025517 | Metabolic Diseases | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0018995 | Hemochromatosis | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
