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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 | 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 |
| 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 |
| C0003742 | Arcus Senilis | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0003742 | Arcus Senilis | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0003635 | Apraxias | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0003635 | Apraxias | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0003635 | Apraxias | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0003635 | Apraxias | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0003635 | Apraxias | PRNP | 5621 | prion protein | P04156 |
| C0003635 | Apraxias | GCK | 2645 | glucokinase | P35557 |
| C0003635 | Apraxias | PRNP | 5621 | prion protein | F7VJQ1 |
| C0003615 | Appendicitis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0003615 | Appendicitis | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0003615 | Appendicitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0003615 | Appendicitis | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0003615 | Appendicitis | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0003615 | Appendicitis | CD14 | 929 | CD14 molecule | P08571 |
| C0003615 | Appendicitis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0003537 | Aphasia | CPM | 1368 | carboxypeptidase M | P14384 |
| C0003537 | Aphasia | PRNP | 5621 | prion protein | P04156 |
