Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833541
Disease: Caroli disease isolated
Caroli disease isolated
0.300 GermlineCausalMutation disease ORPHANET Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. 26385851 2015
CUI: C1833541
Disease: Caroli disease isolated
Caroli disease isolated
0.300 GermlineCausalMutation disease ORPHANET Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. 24710345 2014