Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.020 GeneticVariation group BEFREE Together, these investigations indicate that PKHD1 mutation heterozygosity (predicted frequency 1 in 70 individuals) is an important underlying cause of cystic liver disorders and MSK-like manifestations in a human population. 30600684 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.020 GeneticVariation group BEFREE Kidney and liver disease are independent, and variability in severity is not explainable by type of PKHD1 mutation; ClinicalTrials.gov number, NCT00068224. 23041322 2013