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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 | 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 |
| C0878500 | Intraepithelial Neoplasia | HPSE | 10855 | heparanase | Q9Y251 |
| C0878500 | Intraepithelial Neoplasia | LDHB | 3945 | lactate dehydrogenase B | P07195 |
| C0878500 | Intraepithelial Neoplasia | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0878500 | Intraepithelial Neoplasia | STS | 412 | steroid sulfatase | P08842 |
| C0878500 | Intraepithelial Neoplasia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0878500 | Intraepithelial Neoplasia | MMP25 | 64386 | matrix metallopeptidase 25 | Q9NPA2 |
| C0878500 | Intraepithelial Neoplasia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0878500 | Intraepithelial Neoplasia | CD33 | 945 | CD33 molecule | P20138 |
| C0878500 | Intraepithelial Neoplasia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0878500 | Intraepithelial Neoplasia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0878500 | Intraepithelial Neoplasia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0878500 | Intraepithelial Neoplasia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0877854 | Cerebral Arteriosclerosis | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
