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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 |
|---|---|---|---|---|---|
| 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 |
| C2239176 | Liver carcinoma | FUT11 | 170384 | fucosyltransferase 11 | Q495W5 |
| C0036341 | Schizophrenia | FUT11 | 170384 | fucosyltransferase 11 | Q495W5 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | FUT11 | 170384 | fucosyltransferase 11 | Q495W5 |
| C0684249 | Carcinoma of lung | FUT11 | 170384 | fucosyltransferase 11 | Q495W5 |
| C0242379 | Malignant neoplasm of lung | FUT11 | 170384 | fucosyltransferase 11 | Q495W5 |
| C0278701 | Gastric Adenocarcinoma | GALNTL5 | 168391 | polypeptide N-acetylgalactosaminyltransferase like 5 | Q7Z4T8 |
| C0037274 | Dermatologic disorders | GALNTL5 | 168391 | polypeptide N-acetylgalactosaminyltransferase like 5 | Q7Z4T8 |
| C0021364 | Male infertility | GALNTL5 | 168391 | polypeptide N-acetylgalactosaminyltransferase like 5 | Q7Z4T8 |
| C0009402 | Colorectal Carcinoma | UGT3A2 | 167127 | UDP glycosyltransferase family 3 member A2 | Q3SY77 |
| C0678222 | Breast Carcinoma | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0029456 | Osteoporosis | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0015695 | Fatty Liver | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
