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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 |
|---|---|---|---|---|---|
| C0009319 | Colitis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C3278404 | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009207 | Cockayne Syndrome | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0010495 | Cutis Laxa | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0158761 | Radioulnar Synostosis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009782 | Connective Tissue Diseases | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0003507 | Aortic Valve Stenosis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0013336 | Dwarfism | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0037856 | Spermatic Cord Torsion | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0017574 | Gingivitis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0029422 | Osteochondrodysplasias | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009363 | Congenital ocular coloboma (disorder) | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0003873 | Rheumatoid Arthritis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C2239176 | Liver carcinoma | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0015300 | Exophthalmos | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C2931009 | Congenital disorder of glycosylation type 2D | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0023787 | Lipodystrophy | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| 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 |
