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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 | 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 |
| C0878544 | Cardiomyopathies | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0878544 | Cardiomyopathies | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0878544 | Cardiomyopathies | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0878544 | Cardiomyopathies | DCN | 1634 | decorin | P07585 |
| C0878544 | Cardiomyopathies | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0878544 | Cardiomyopathies | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0878544 | Cardiomyopathies | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0878544 | Cardiomyopathies | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0878544 | Cardiomyopathies | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0878544 | Cardiomyopathies | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
