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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0432333 | Abnormal dermatoglyphic pattern | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0026769 | Multiple Sclerosis | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C2239176 | Liver carcinoma | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0349506 | Photosensitivity of skin | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0600139 | Prostate carcinoma | MGAT4C | 25834 | MGAT4 family member C | Q9UBM8 |
| C0037369 | Smoking | MGAT4C | 25834 | MGAT4 family member C | Q9UBM8 |
| C0376358 | Malignant neoplasm of prostate | MGAT4C | 25834 | MGAT4 family member C | Q9UBM8 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MGAT4C | 25834 | MGAT4 family member C | Q9UBM8 |
| C0015306 | Hereditary Multiple Exostoses | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0086649 | MPS III C | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0086647 | Mucopolysaccharidosis Type IIIA | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C1561643 | Chronic Kidney Diseases | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0029454 | Osteopetrosis | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0027651 | Neoplasms | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0026703 | Mucopolysaccharidoses | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
