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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 |
|---|---|---|---|---|---|
| C0025958 | Microcephaly | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0022578 | Keratoconus | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0011570 | Mental Depression | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0678222 | Breast Carcinoma | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0020615 | Hypoglycemia | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0042341 | Varicocele | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C1853698 | Rippling muscle disease | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0456909 | Blindness | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C2713347 | 7-Dehydrocholesterol Reductase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0175694 | Smith-Lemli-Opitz Syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0036439 | Scoliosis, unspecified | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C3696376 | 3-Methylglutaconic Aciduria | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0026650 | Movement Disorders | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0239946 | Fibrosis, Liver | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C2717836 | Steroid Sulfatase Deficiency Disease | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0000768 | Congenital Abnormality | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0398739 | Congenital disorder of glycosylation, type 2C | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0017601 | Glaucoma | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0013595 | Eczema | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0025958 | Microcephaly | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0042870 | Vitamin D Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0235991 | Small for gestational age (disorder) | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1389016 | ATRIOVENTRICULAR CANAL DEFECT | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1785148 | RAPP-HODGKIN SYNDROME | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
