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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 | 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 |
| 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 |
| C0009691 | Congenital cataract | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0009691 | Congenital cataract | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0009691 | Congenital cataract | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0009691 | Congenital cataract | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0009691 | Congenital cataract | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0009691 | Congenital cataract | GPC5 | 2262 | glypican 5 | P78333 |
| C0009691 | Congenital cataract | GALK1 | 2584 | galactokinase 1 | P51570 |
