rs199568593, PKHD1

N. diseases: 1
Disease: Autosomal Recessive Polycystic Kidney Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
0.700 GeneticVariation CLINVAR [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review]. 29643536 2018
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
0.700 GeneticVariation CLINVAR Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation. 28851938 2017
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
0.700 GeneticVariation CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411 2016
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
0.700 GeneticVariation CLINVAR Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. 24710345 2014
Autosomal Recessive Polycystic Kidney Disease
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
0.700 GeneticVariation CLINVAR Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. 25124979 2014