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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 |
|---|---|---|---|---|---|
| C0409974 | Lupus Erythematosus | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0410173 | Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | FKTN | 2218 | fukutin | O75072 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0410179 | Ullrich congenital muscular dystrophy 1 | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C0410180 | Eichsfeld type congenital muscular dystrophy | FKTN | 2218 | fukutin | O75072 |
| C0410189 | Muscular Dystrophy, Emery-Dreifuss | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0410203 | X-linked centronuclear myopathy | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0410203 | X-linked centronuclear myopathy | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0410203 | X-linked centronuclear myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0410203 | X-linked centronuclear myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0410203 | X-linked centronuclear myopathy | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
