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: rs750730042
rs750730042
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		T 0.800 GeneticVariation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849 2016
dbSNP: rs750730042
rs750730042
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. 25015577 2014
dbSNP: rs750730042
rs750730042
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		T 0.800 GeneticVariation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852 2010