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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 |
|---|---|---|---|---|---|
| C1861172 | Venous Thromboembolism | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C1861172 | Venous Thromboembolism | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0042487 | Venous Thrombosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0042487 | Venous Thrombosis | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0042487 | Venous Thrombosis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0042487 | Venous Thrombosis | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0042487 | Venous Thrombosis | CALR | 811 | calreticulin | P27797 |
| C0042487 | Venous Thrombosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0042487 | Venous Thrombosis | SELP | 6403 | selectin P | P16109 |
| C0042487 | Venous Thrombosis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0042487 | Venous Thrombosis | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0042487 | Venous Thrombosis | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0265950 | Venous malformation | LGALS3 | 3958 | galectin 3 | P17931 |
| C0265950 | Venous malformation | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0265950 | Venous malformation | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0265950 | Venous malformation | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0265950 | Venous malformation | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0265950 | Venous malformation | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0018818 | Ventricular Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0018818 | Ventricular Septal Defects | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0018818 | Ventricular Septal Defects | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0018818 | Ventricular Septal Defects | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0018818 | Ventricular Septal Defects | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0018818 | Ventricular Septal Defects | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0018818 | Ventricular Septal Defects | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
