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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 |
|---|---|---|---|---|---|
| C0878544 | Cardiomyopathies | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0878544 | Cardiomyopathies | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0878544 | Cardiomyopathies | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0878544 | Cardiomyopathies | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0878544 | Cardiomyopathies | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0878544 | Cardiomyopathies | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0878544 | Cardiomyopathies | GLA | 2717 | galactosidase alpha | P06280 |
| C0878544 | Cardiomyopathies | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0878544 | Cardiomyopathies | GUSB | 2990 | glucuronidase beta | P08236 |
| C0878544 | Cardiomyopathies | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0878544 | Cardiomyopathies | ARSB | 411 | arylsulfatase B | P15848 |
| C0878544 | Cardiomyopathies | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0878544 | Cardiomyopathies | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0878544 | Cardiomyopathies | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0878544 | Cardiomyopathies | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0878544 | Cardiomyopathies | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0878544 | Cardiomyopathies | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0878544 | Cardiomyopathies | HPSE | 10855 | heparanase | Q9Y251 |
| C0878544 | Cardiomyopathies | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| C0878544 | Cardiomyopathies | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0878544 | Cardiomyopathies | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0878544 | Cardiomyopathies | CS | 1431 | citrate synthase | O75390 |
| C0878544 | Cardiomyopathies | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0878544 | Cardiomyopathies | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0878544 | Cardiomyopathies | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
