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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 | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0878544 | Cardiomyopathies | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0878544 | Cardiomyopathies | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0878544 | Cardiomyopathies | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0878544 | Cardiomyopathies | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0878544 | Cardiomyopathies | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0878544 | Cardiomyopathies | ACSL1 | 2180 | acyl-CoA synthetase long chain family member 1 | P33121 |
| C0878544 | Cardiomyopathies | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0878544 | Cardiomyopathies | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0878544 | Cardiomyopathies | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0878544 | Cardiomyopathies | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0878544 | Cardiomyopathies | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0878544 | Cardiomyopathies | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0878544 | Cardiomyopathies | ARSD | 414 | arylsulfatase D | P51689 |
| C0878544 | Cardiomyopathies | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0878544 | Cardiomyopathies | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0878544 | Cardiomyopathies | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0878544 | Cardiomyopathies | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0878544 | Cardiomyopathies | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0878544 | Cardiomyopathies | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0878544 | Cardiomyopathies | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0878544 | Cardiomyopathies | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C1275081 | Cardio-facio-cutaneous syndrome | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0392077 | Cardiac sarcoidosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0392077 | Cardiac sarcoidosis | CALR | 811 | calreticulin | P27797 |
