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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 |
|---|---|---|---|---|---|
| C0003615 | Appendicitis | CD14 | 929 | CD14 molecule | P08571 |
| C0003615 | Appendicitis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| 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 |
| C0003742 | Arcus Senilis | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0003742 | Arcus Senilis | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| 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 |
| C0003811 | Cardiac Arrhythmia | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0003811 | Cardiac Arrhythmia | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
| C0003811 | Cardiac Arrhythmia | GLA | 2717 | galactosidase alpha | P06280 |
| C0003811 | Cardiac Arrhythmia | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0003811 | Cardiac Arrhythmia | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0003811 | Cardiac Arrhythmia | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0003811 | Cardiac Arrhythmia | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0003811 | Cardiac Arrhythmia | ALG10B | 144245 | ALG10 alpha-1,2-glucosyltransferase B | Q5I7T1 |
| C0003811 | Cardiac Arrhythmia | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C0003811 | Cardiac Arrhythmia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0003811 | Cardiac Arrhythmia | GYG1 | 2992 | glycogenin 1 | P46976 |
