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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 | 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 |
| C0878544 | Cardiomyopathies | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0878544 | Cardiomyopathies | GYS1 | 2997 | glycogen synthase 1 | P13807 |
| C0878544 | Cardiomyopathies | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0878544 | Cardiomyopathies | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0878544 | Cardiomyopathies | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0878544 | Cardiomyopathies | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0878544 | Cardiomyopathies | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0878544 | Cardiomyopathies | CALR | 811 | calreticulin | P27797 |
| C0878544 | Cardiomyopathies | KL | 9365 | klotho | Q9UEF7 |
| C0878544 | Cardiomyopathies | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0878544 | Cardiomyopathies | MASP2 | 10747 | mannan binding lectin serine peptidase 2 | O00187 |
