Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.140 GeneticVariation disease BEFREE Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease. 29520754 2018
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.140 Biomarker disease BEFREE Similar to ADPKD, Pkd1 cKO mice developed renal and hepatic cysts. 23032260 2012
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.140 Biomarker disease BEFREE Autosomal dominant polycystic disease is genetically heterogeneous with mutations in two distinct genes predisposing to the combination of renal and liver cysts (AD-PKD1 and AD-PKD2) and mutations in a third gene yielding isolated liver cysts (the polycystic liver disease gene). 15382167 2004
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.140 GeneticVariation disease BEFREE This became evident by demonstrating that the normal PKD1 allele was inactivated somatically by loss of heterozygosity or by mutagenesis in a subset of renal or liver cysts examined. 9949210 1999
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.140 Biomarker disease HPO
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.140 CausalMutation disease CLINVAR
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.140 GeneticVariation disease CLINVAR