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: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 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: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. 25701400 2015
dbSNP: rs1554218666
rs1554218666
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: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852 2010
dbSNP: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation. 16677362 2006
dbSNP: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.800 GeneticVariation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281 2004
dbSNP: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281 2004
dbSNP: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734 2003
dbSNP: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454 2003
dbSNP: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140 2003
dbSNP: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. 11898128 2002
dbSNP: rs1554218666
rs1554218666
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.800 GeneticVariation UNIPROT The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560 2002