Disease: Autosomal Recessive Polycystic Kidney Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199568593
rs199568593
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		G 0.700 GeneticVariation CLINVAR [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review]. 29643536 2018
dbSNP: rs199568593
rs199568593
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		G 0.700 GeneticVariation CLINVAR Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation. 28851938 2017
dbSNP: rs199568593
rs199568593
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		G 0.700 GeneticVariation CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411 2016
dbSNP: rs199568593
rs199568593
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		G 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. 24710345 2014
dbSNP: rs199568593
rs199568593
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		G 0.700 GeneticVariation CLINVAR Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. 25124979 2014