Disease: Ductal plate malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673892
Disease: Ductal plate malformation
Ductal plate malformation 		0.020 GeneticVariation disease BEFREE Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 26385851 2015
CUI: C2673892
Disease: Ductal plate malformation
Ductal plate malformation 		0.020 AlteredExpression disease BEFREE PKHD1/fibrocystin, the defective gene in ARPKD, is expressed in the cilia of bile duct epithelium and leads to abnormalities in the rubric of the ductal plate malformation. 16176423 2005