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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 |
|---|---|---|---|---|---|
| C0003811 | Cardiac Arrhythmia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003811 | Cardiac Arrhythmia | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0003811 | Cardiac Arrhythmia | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0003811 | Cardiac Arrhythmia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0003811 | Cardiac Arrhythmia | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0003811 | Cardiac Arrhythmia | ITPKB | 3707 | inositol-trisphosphate 3-kinase B | P27987 |
| C0003811 | Cardiac Arrhythmia | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0003811 | Cardiac Arrhythmia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0003811 | Cardiac Arrhythmia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003811 | Cardiac Arrhythmia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0003811 | Cardiac Arrhythmia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0003811 | Cardiac Arrhythmia | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0003811 | Cardiac Arrhythmia | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1959584 | Cardiac Carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1959584 | Cardiac Carcinoma | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0007177 | Cardiac Tamponade | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0007177 | Cardiac Tamponade | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0340420 | Cardiac glycogenosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0392077 | Cardiac sarcoidosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0392077 | Cardiac sarcoidosis | CALR | 811 | calreticulin | P27797 |
| C1275081 | Cardio-facio-cutaneous syndrome | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C0878544 | Cardiomyopathies | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0878544 | Cardiomyopathies | FKTN | 2218 | fukutin | O75072 |
| C0878544 | Cardiomyopathies | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0878544 | Cardiomyopathies | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
