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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 |
| C0006826 | Malignant Neoplasms | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C1306459 | Primary malignant neoplasm | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0699790 | Colon Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0009402 | Colorectal Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0206701 | Cystadenocarcinoma, Serous | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0678222 | Breast Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0476089 | Endometrial Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C1140680 | Malignant neoplasm of ovary | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0007097 | Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0338106 | Adenocarcinoma of colon | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C4721610 | Carcinoma, Ovarian Epithelial | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
