Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4255088
Disease: Isolated polycystic liver disease
Isolated polycystic liver disease
0.020 Biomarker disease BEFREE We also found enrichment on a genome-wide basis of heterozygous mutations in the autosomal recessive polycystic kidney disease gene PKHD1, indicating that adult PKHD1 carriers can present with clinical PCLD. 28862642 2017
CUI: C4255088
Disease: Isolated polycystic liver disease
Isolated polycystic liver disease
0.020 Biomarker disease BEFREE We also found enrichment on a genome-wide basis of heterozygous mutations in the autosomal recessive polycystic kidney disease gene PKHD1, indicating that adult PKHD1 carriers can present with clinical PCLD. 28375157 2017