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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 |
|---|---|---|---|---|---|
| C0010964 | Dandy-Walker Syndrome | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0520947 | Clumsiness - motor delay | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0026010 | Microphthalmos | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0010038 | Corneal Opacity | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0026848 | Myopathy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0079541 | Holoprosencephaly | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0025958 | Microcephaly | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0013421 | Dystonia | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0008489 | Chorea | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0036572 | Seizures | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C2239176 | Liver carcinoma | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0234533 | Generalized seizures | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0038379 | Strabismus | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C1527366 | Salaam Seizures | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0018995 | Hemochromatosis | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0013264 | Muscular Dystrophy, Duchenne | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C1561643 | Chronic Kidney Diseases | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0392514 | Hereditary hemochromatosis | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0003864 | Arthritis | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0268060 | Juvenile hemochromatosis | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C3469186 | HEMOCHROMATOSIS, TYPE 1 | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0948008 | Ischemic stroke | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C1865614 | HEMOCHROMATOSIS, TYPE 2A | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0023903 | Liver neoplasms | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0678222 | Breast Carcinoma | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
