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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 | 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 |
| C0878544 | Cardiomyopathies | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0878544 | Cardiomyopathies | SI | 6476 | sucrase-isomaltase | P14410 |
| C0878544 | Cardiomyopathies | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0878544 | Cardiomyopathies | CAT | 847 | catalase | P04040 |
| C0878544 | Cardiomyopathies | ATRN | 8455 | attractin | O75882 |
| C0878544 | Cardiomyopathies | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0878544 | Cardiomyopathies | CBR3 | 874 | carbonyl reductase 3 | O75828 |
| C0878544 | Cardiomyopathies | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0878544 | Cardiomyopathies | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C0878544 | Cardiomyopathies | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C0878544 | Cardiomyopathies | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0878544 | Cardiomyopathies | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0878544 | Cardiomyopathies | GPC3 | 2719 | glypican 3 | P51654 |
| C0878544 | Cardiomyopathies | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0878544 | Cardiomyopathies | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
