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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 |
|---|---|---|---|---|---|
| C0003857 | Congenital arteriovenous malformation | GUSB | 2990 | glucuronidase beta | P08236 |
| C0003857 | Congenital arteriovenous malformation | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0003857 | Congenital arteriovenous malformation | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0003857 | Congenital arteriovenous malformation | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0003857 | Congenital arteriovenous malformation | EFNA1 | 1942 | ephrin A1 | P20827 |
| C0003857 | Congenital arteriovenous malformation | ANXA5 | 308 | annexin A5 | P08758 |
| C0003857 | Congenital arteriovenous malformation | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0003857 | Congenital arteriovenous malformation | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0003857 | Congenital arteriovenous malformation | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0003857 | Congenital arteriovenous malformation | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003857 | Congenital arteriovenous malformation | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0003857 | Congenital arteriovenous malformation | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0003857 | Congenital arteriovenous malformation | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003857 | Congenital arteriovenous malformation | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0003851 | Arteriosclerosis Obliterans | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0003851 | Arteriosclerosis Obliterans | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0003850 | Arteriosclerosis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0003850 | Arteriosclerosis | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0003850 | Arteriosclerosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0003850 | Arteriosclerosis | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0003850 | Arteriosclerosis | FUT7 | 2529 | fucosyltransferase 7 | Q11130 |
| C0003850 | Arteriosclerosis | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
