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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 |
|---|---|---|---|---|---|
| C2720163 | Placental Steroid Sulfatase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1868720 | Periventricular Nodular Heterotopia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0026697 | Mucolipidoses | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0018818 | Ventricular Septal Defects | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1531647 | Cerebral ventriculomegaly | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0152427 | Polydactyly | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1609433 | Congenital absence of kidneys syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0848558 | Hypospadias | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0338502 | Hypoplasia of the optic nerve | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C3714581 | Multicystic Dysplastic Kidney | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0079924 | Oligohydramnios | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0010054 | Coronary Arteriosclerosis | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0025362 | Mental Retardation | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0007102 | Malignant tumor of colon | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0013336 | Dwarfism | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1510586 | Autism Spectrum Disorders | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0035579 | Rickets | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0032460 | Polycystic Ovary Syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0004364 | Autoimmune Diseases | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0010964 | Dandy-Walker Syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0699790 | Colon Carcinoma | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0020224 | Polyhydramnios | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0025988 | Microglossia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0008297 | Choanal Atresia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
