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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 |
|---|---|---|---|---|---|
| C0238288 | Muscular Dystrophy, Facioscapulohumeral | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0238288 | Muscular Dystrophy, Facioscapulohumeral | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0238288 | Muscular Dystrophy, Facioscapulohumeral | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0238288 | Muscular Dystrophy, Facioscapulohumeral | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0238288 | Muscular Dystrophy, Facioscapulohumeral | SDC2 | 6383 | syndecan 2 | P34741 |
| C0270952 | Muscular Dystrophy, Oculopharyngeal | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0270952 | Muscular Dystrophy, Oculopharyngeal | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | FKTN | 2218 | fukutin | O75072 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1263858 | Muscular dystrophy congenital, merosin negative | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C1263858 | Muscular dystrophy congenital, merosin negative | DCN | 1634 | decorin | P07585 |
| C1263858 | Muscular dystrophy congenital, merosin negative | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0026857 | Musculoskeletal Diseases | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0026857 | Musculoskeletal Diseases | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
