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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 |
|---|---|---|---|---|---|
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C3150415 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0006142 | Malignant neoplasm of breast | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C3809042 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C2875316 | Myotubular (centronuclear) myopathy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0546264 | Congenital Fiber Type Disproportion | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0002902 | Anencephaly | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0456909 | Blindness | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0266483 | Pachygyria | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0206157 | Myopathies, Nemaline | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0026850 | Muscular Dystrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0020255 | Hydrocephalus | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0017601 | Glaucoma | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C1257931 | Mammary Neoplasms, Human | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0751951 | Central Core Myopathy (disorder) | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010038 | Corneal Opacity | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0266551 | Congenital coloboma of iris | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0020295 | Hydronephrosis | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0270962 | Multi-core congenital myopathy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0086543 | Cataract | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
