Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. 26695994 2015
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.810 GeneticVariation UNIPROT A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. 25701400 2015
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease. 25124979 2014
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR First, we assayed a European cohort of ARPKD patients and found T36M was responsible for 13.1% of mutations. 21274727 2011
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852 2010
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.810 GeneticVariation UNIPROT PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852 2010
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. 20413436 2010
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.810 GeneticVariation UNIPROT Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation. 16677362 2006
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). 16133180 2005
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161 2005
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). 16199545 2005
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. 15696446 2005
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.810 GeneticVariation BEFREE Except for a few population-specific founder alleles and the common c.107C>T (p.Thr36Met) missense change, PKHD1 is characterized by significant allelic diversity, making mutation screening time-consuming and labor-intensive. 15706593 2005
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.810 GeneticVariation UNIPROT PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281 2004
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281 2004
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). 15108277 2004
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.810 GeneticVariation UNIPROT Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454 2003
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734 2003
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140 2003
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.810 GeneticVariation UNIPROT Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140 2003
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454 2003
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.810 GeneticVariation UNIPROT A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 12846734 2003
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560 2002
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		0.810 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: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		A 0.810 CausalMutation CLINVAR 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