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 |
---|---|---|---|---|---|
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 |
C3266731 | 2-methyl-3-hydroxybutyric aciduria | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C3714756 | Intellectual Disability | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C1956346 | Coronary Artery Disease | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C1384666 | hearing impairment | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0027707 | Nephritis, Interstitial | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0266111 | Bifid tongue | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0266551 | Congenital coloboma of iris | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0019196 | Hepatitis C | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0007222 | Cardiovascular Diseases | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0003873 | Rheumatoid Arthritis | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
C0004943 | Behcet Syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
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 |
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Last updated: August 19, 2024