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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 |
|---|---|---|---|---|---|
| C0003838 | Arterial Occlusive Diseases | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | FASN | 2194 | fatty acid synthase | P49327 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0349788 | Arrhythmogenic Right Ventricular Dysplasia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003803 | Arnold Chiari Malformation | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0003803 | Arnold Chiari Malformation | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003803 | Arnold Chiari Malformation | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0078982 | Arhinencephaly | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0078982 | Arhinencephaly | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0078982 | Arhinencephaly | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0268547 | Argininosuccinic Aciduria | ARSA | 410 | arylsulfatase A | P15289 |
| C0268547 | Argininosuccinic Aciduria | RGN | 9104 | regucalcin | Q15493 |
| C0268547 | Argininosuccinic Aciduria | ARSD | 414 | arylsulfatase D | P51689 |
| C0003742 | Arcus Senilis | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0003742 | Arcus Senilis | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C2936786 | Aqueductal Stenosis | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C2936786 | Aqueductal Stenosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C2936786 | Aqueductal Stenosis | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0003635 | Apraxias | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0003635 | Apraxias | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
