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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 |
|---|---|---|---|---|---|
| C0026850 | Muscular Dystrophy | INPP5B | 3633 | inositol polyphosphate-5-phosphatase B | P32019 |
| C0026850 | Muscular Dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C2750786 | Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1865233 | Muscular Dystrophy, Congenital, Megaconial Type | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C1865233 | Muscular Dystrophy, Congenital, Megaconial Type | CHKA | 1119 | choline kinase alpha | P35790 |
| C1837229 | Muscular Dystrophy, Congenital, Type 1D | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0013264 | Muscular Dystrophy, Duchenne | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0013264 | Muscular Dystrophy, Duchenne | FKTN | 2218 | fukutin | O75072 |
| C0013264 | Muscular Dystrophy, Duchenne | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0013264 | Muscular Dystrophy, Duchenne | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0013264 | Muscular Dystrophy, Duchenne | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0013264 | Muscular Dystrophy, Duchenne | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0013264 | Muscular Dystrophy, Duchenne | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0013264 | Muscular Dystrophy, Duchenne | ENO1 | 2023 | enolase 1 | P06733 |
| C0013264 | Muscular Dystrophy, Duchenne | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0013264 | Muscular Dystrophy, Duchenne | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0013264 | Muscular Dystrophy, Duchenne | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0013264 | Muscular Dystrophy, Duchenne | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0013264 | Muscular Dystrophy, Duchenne | KL | 9365 | klotho | Q9UEF7 |
| C0013264 | Muscular Dystrophy, Duchenne | CD38 | 952 | CD38 molecule | P28907 |
| C0013264 | Muscular Dystrophy, Duchenne | SDC3 | 9672 | syndecan 3 | O75056 |
| C0013264 | Muscular Dystrophy, Duchenne | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0013264 | Muscular Dystrophy, Duchenne | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0013264 | Muscular Dystrophy, Duchenne | VCAN | 1462 | versican | P13611 |
| C0013264 | Muscular Dystrophy, Duchenne | DCN | 1634 | decorin | P07585 |
