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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 | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0878544 | Cardiomyopathies | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0878544 | Cardiomyopathies | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0878544 | Cardiomyopathies | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| 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 |
