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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 |
|---|---|---|---|---|---|
| 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 |
| C0029456 | Osteoporosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C2981140 | Glaucoma of childhood | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0014877 | Esotropia | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0009081 | Congenital clubfoot | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0036439 | Scoliosis, unspecified | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0020302 | Hydrophthalmos | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0345904 | Malignant neoplasm of liver | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0016522 | Foramen Ovale, Patent | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0034069 | Pulmonary Fibrosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0029422 | Osteochondrodysplasias | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
