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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 |
|---|---|---|---|---|---|
| C0686353 | Muscular Dystrophies, Limb-Girdle | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0026850 | Muscular Dystrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0026850 | Muscular Dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0026850 | Muscular Dystrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0026850 | Muscular Dystrophy | LARGE2 | 120071 | LARGE xylosyl- and glucuronyltransferase 2 | Q8N3Y3 |
| C0026850 | Muscular Dystrophy | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0026850 | Muscular Dystrophy | FKTN | 2218 | fukutin | O75072 |
| C0026850 | Muscular Dystrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0026850 | Muscular Dystrophy | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0026850 | Muscular Dystrophy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0026850 | Muscular Dystrophy | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0026850 | Muscular Dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0026850 | Muscular Dystrophy | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0026850 | Muscular Dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0026850 | Muscular Dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0026850 | Muscular Dystrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0026850 | Muscular Dystrophy | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0026850 | Muscular Dystrophy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0026850 | Muscular Dystrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0026850 | Muscular Dystrophy | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0026850 | Muscular Dystrophy | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
