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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 |
|---|---|---|---|---|---|
| C0162871 | Aortic Aneurysm, Abdominal | CYP2J2 | 1573 | cytochrome P450 family 2 subfamily J member 2 | P51589 |
| C0162871 | Aortic Aneurysm, Abdominal | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0162871 | Aortic Aneurysm, Abdominal | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0162871 | Aortic Aneurysm, Abdominal | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0162871 | Aortic Aneurysm, Abdominal | LTC4S | 4056 | leukotriene C4 synthase | Q16873 |
| C0162871 | Aortic Aneurysm, Abdominal | ACLY | 47 | ATP citrate lyase | P53396 |
| C0162871 | Aortic Aneurysm, Abdominal | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0162871 | Aortic Aneurysm, Abdominal | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0162871 | Aortic Aneurysm, Abdominal | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0162871 | Aortic Aneurysm, Abdominal | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0162871 | Aortic Aneurysm, Abdominal | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0162871 | Aortic Aneurysm, Abdominal | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0162871 | Aortic Aneurysm, Abdominal | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0162871 | Aortic Aneurysm, Abdominal | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0003493 | Aortic Diseases | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0003493 | Aortic Diseases | CAT | 847 | catalase | P04040 |
| C0003493 | Aortic Diseases | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0003493 | Aortic Diseases | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C3887892 | Aortic Valve Disease 1 | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0003504 | Aortic Valve Insufficiency | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0003504 | Aortic Valve Insufficiency | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0003504 | Aortic Valve Insufficiency | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0003504 | Aortic Valve Insufficiency | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0003504 | Aortic Valve Insufficiency | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0003504 | Aortic Valve Insufficiency | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
