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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 |
|---|---|---|---|---|---|
| C0003507 | Aortic Valve Stenosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0003507 | Aortic Valve Stenosis | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0003507 | Aortic Valve Stenosis | CD14 | 929 | CD14 molecule | P08571 |
| C0003507 | Aortic Valve Stenosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003507 | Aortic Valve Stenosis | SDC4 | 6385 | syndecan 4 | P31431 |
| C0003507 | Aortic Valve Stenosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0003507 | Aortic Valve Stenosis | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0003507 | Aortic Valve Stenosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0003507 | Aortic Valve Stenosis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0003507 | Aortic Valve Stenosis | ARSD | 414 | arylsulfatase D | P51689 |
| C0003507 | Aortic Valve Stenosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0003507 | Aortic Valve Stenosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003507 | Aortic Valve Stenosis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0003509 | Aortitis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0003509 | Aortitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0003509 | Aortitis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0003537 | Aphasia | CPM | 1368 | carboxypeptidase M | P14384 |
| C0003537 | Aphasia | PRNP | 5621 | prion protein | P04156 |
| C0003537 | Aphasia | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0003537 | Aphasia | 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 |
