GPC1, glypican 1, 2817

N. diseases: 96; N. variants: 3
Disease: Congenital atresia of extrahepatic bile duct ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		0.020 GeneticVariation disease BEFREE Common variants of GPC1 gene were genetically involved in BA risk. 27373597 2016
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		0.020 GeneticVariation disease BEFREE We observed a statistically significant increase in deletions at 2q37.3 in patients with BA that resulted in deletion of one copy of GPC1, which encodes glypican 1, a heparan sulfate proteoglycan that regulates Hedgehog signaling and inflammation. 23336978 2013