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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 |
|---|---|---|---|---|---|
| C0010495 | Cutis Laxa | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0149630 | Bicuspid aortic valve | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0010278 | Craniosynostosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0002418 | Amblyopia | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0034951 | Refractive Errors | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0020255 | Hydrocephalus | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0027651 | Neoplasms | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0677886 | Epithelial ovarian cancer | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0700095 | Central neuroblastoma | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C3714756 | Intellectual Disability | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0030567 | Parkinson Disease | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1458155 | Mammary Neoplasms | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1956346 | Coronary Artery Disease | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0027819 | Neuroblastoma | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0006826 | Malignant Neoplasms | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0025202 | melanoma | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0021841 | Intestinal Neoplasms | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0033790 | Pseudobulbar Palsy | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1836632 | SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder) | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0685938 | Malignant neoplasm of gastrointestinal tract | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1621958 | Glioblastoma Multiforme | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0037773 | Spastic Paraplegia, Hereditary | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0023434 | Chronic Lymphocytic Leukemia | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0013421 | Dystonia | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
