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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0340076 | Asthmatic pulmonary eosinophilia | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
C0340076 | Asthmatic pulmonary eosinophilia | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
C0340076 | Asthmatic pulmonary eosinophilia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
C0340293 | Anterior myocardial infarction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0340293 | Anterior myocardial infarction | LGALS3 | 3958 | galectin 3 | P17931 |
C0340293 | Anterior myocardial infarction | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
C0340293 | Anterior myocardial infarction | CAT | 847 | catalase | P04040 |
C0340305 | Inferior Wall Myocardial Infarction | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
C0340319 | Posterior myocardial infarction | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
C0340420 | Cardiac glycogenosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C0340427 | Familial dilated cardiomyopathy | FKTN | 2218 | fukutin | O75072 |
C0340427 | Familial dilated cardiomyopathy | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
C0340427 | Familial dilated cardiomyopathy | CNTN3 | 5067 | contactin 3 | Q9P232 |
C0340427 | Familial dilated cardiomyopathy | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C0340569 | Internal Carotid Artery Stenosis | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
C0340569 | Internal Carotid Artery Stenosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0340803 | Capillary malformation (disorder) | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
C0340803 | Capillary malformation (disorder) | MAG | 4099 | myelin associated glycoprotein | P20916 |
C0340803 | Capillary malformation (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0340803 | Capillary malformation (disorder) | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
C0340968 | Deficiency of pyruvate kinase | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C0340968 | Deficiency of pyruvate kinase | HK1 | 3098 | hexokinase 1 | P19367 |
C0340968 | Deficiency of pyruvate kinase | PKLR | 5313 | pyruvate kinase L/R | P30613 |
C0340978 | May-Hegglin anomaly | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0340978 | May-Hegglin anomaly | PRNP | 5621 | prion protein | P04156 |
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Last updated: August 19, 2024