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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 |
|---|---|---|---|---|---|
| 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 |
| C0266544 | Microcornea | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0026010 | Microphthalmos | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0678222 | Breast Carcinoma | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010417 | Cryptorchidism | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0029124 | Optic Atrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0035305 | Retinal Detachment | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0025958 | Microcephaly | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010964 | Dandy-Walker Syndrome | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0241005 | Creatine phosphokinase serum increased | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0751882 | Myasthenic Syndromes, Congenital | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1568363 | Tendinosis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C3714756 | Intellectual Disability | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0028043 | Nicotine Dependence | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0004096 | Asthma | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0270824 | Visual seizure | CHAT | 1103 | choline O-acetyltransferase | P28329 |
