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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 |
|---|---|---|---|---|---|
| C4520983 | Congenital atresia of extrahepatic bile duct | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C4520983 | Congenital atresia of extrahepatic bile duct | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C4520983 | Congenital atresia of extrahepatic bile duct | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C4520983 | Congenital atresia of extrahepatic bile duct | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C4520983 | Congenital atresia of extrahepatic bile duct | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C4520983 | Congenital atresia of extrahepatic bile duct | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C4520983 | Congenital atresia of extrahepatic bile duct | CD14 | 929 | CD14 molecule | P08571 |
| C4520983 | Congenital atresia of extrahepatic bile duct | GPC1 | 2817 | glypican 1 | P35052 |
| C4520983 | Congenital atresia of extrahepatic bile duct | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C4520983 | Congenital atresia of extrahepatic bile duct | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C4520983 | Congenital atresia of extrahepatic bile duct | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0003857 | Congenital arteriovenous malformation | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| 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 |
