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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 |
|---|---|---|---|---|---|
| C0270922 | Peripheral demyelinating neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0270952 | Muscular Dystrophy, Oculopharyngeal | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0270952 | Muscular Dystrophy, Oculopharyngeal | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0270960 | Congenital myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0270960 | Congenital myopathy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0270960 | Congenital myopathy (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0270960 | Congenital myopathy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0270960 | Congenital myopathy (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0270960 | Congenital myopathy (disorder) | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0270960 | Congenital myopathy (disorder) | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0270960 | Congenital myopathy (disorder) | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0270960 | Congenital myopathy (disorder) | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0270962 | Multi-core congenital myopathy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0270962 | Multi-core congenital myopathy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0270962 | Multi-core congenital myopathy | FKTN | 2218 | fukutin | O75072 |
| C0270962 | Multi-core congenital myopathy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0270962 | Multi-core congenital myopathy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0270962 | Multi-core congenital myopathy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0270962 | Multi-core congenital myopathy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0270968 | Limb-girdle muscular dystrophy type 2H | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0270972 | Cornelia De Lange Syndrome | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C0270972 | Cornelia De Lange Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0270972 | Cornelia De Lange Syndrome | TNKS | 8658 | tankyrase | O95271 |
| C0270972 | Cornelia De Lange Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0271007 | Phthisis bulbi | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
