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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 | 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 |
| C4520822 | Stage 0 Colon Cancer AJCC v6 and v7 | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C4520821 | Stage 0 Breast Cancer AJCC v6 and v7 | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C4518337 | Spinocerebellar ataxia type 38 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C4511687 | Pancreatic Intraductal Papillary Mucinous Neoplasm | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C4511687 | Pancreatic Intraductal Papillary Mucinous Neoplasm | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C4511687 | Pancreatic Intraductal Papillary Mucinous Neoplasm | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C4511687 | Pancreatic Intraductal Papillary Mucinous Neoplasm | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4511687 | Pancreatic Intraductal Papillary Mucinous Neoplasm | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4511687 | Pancreatic Intraductal Papillary Mucinous Neoplasm | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C4511687 | Pancreatic Intraductal Papillary Mucinous Neoplasm | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4511687 | Pancreatic Intraductal Papillary Mucinous Neoplasm | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4510897 | Omodysplasia | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C4510897 | Omodysplasia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C4510873 | Atypical juvenile parkinsonism | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4479620 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C4479410 | MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C4479409 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C4479409 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
