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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 | 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 |
| C0878544 | Cardiomyopathies | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0878544 | Cardiomyopathies | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0878544 | Cardiomyopathies | LGALS3 | 3958 | galectin 3 | P17931 |
| C0878544 | Cardiomyopathies | LPL | 4023 | lipoprotein lipase | P06858 |
| C0878544 | Cardiomyopathies | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0878544 | Cardiomyopathies | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0878544 | Cardiomyopathies | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0878544 | Cardiomyopathies | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0878544 | Cardiomyopathies | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0878544 | Cardiomyopathies | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0878544 | Cardiomyopathies | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0878544 | Cardiomyopathies | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0878544 | Cardiomyopathies | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0878544 | Cardiomyopathies | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
