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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 |
|---|---|---|---|---|---|
| C0037772 | Spastic Paraplegia | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C2239176 | Liver carcinoma | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0027765 | nervous system disorder | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0034152 | Henoch-Schoenlein Purpura | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0036439 | Scoliosis, unspecified | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0027651 | Neoplasms | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0151721 | Testicular hypogonadism | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1306459 | Primary malignant neoplasm | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0013384 | Dyskinetic syndrome | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0086543 | Cataract | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0020490 | Hyperopia | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0017601 | Glaucoma | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0000768 | Congenital Abnormality | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0013336 | Dwarfism | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C3278404 | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0221356 | Brachycephaly | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0008925 | Cleft Palate | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0432255 | Geroderma osteodysplastica | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C1800706 | Idiopathic Pulmonary Fibrosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0016202 | Flatfoot | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0158761 | Radioulnar Synostosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0026267 | Mitral Valve Prolapse Syndrome | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0018798 | Congenital Heart Defects | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
