Gene: PKHD1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR [Neoplasic perineal implantation following needle biopsy (author's transl)]. 1189128 1975
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR We have identified PKHD1, the gene mutated in ARPKD. 11898128 2002
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR We have identified PKHD1, the gene mutated in ARPKD. 11898128 2002
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes. 11919560 2002
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes. 11919560 2002
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140 2003
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140 2003
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Forty-seven ARPKD and 14 pedigrees with congenital hepatic fibrosis and/or Caroli's disease, were screened for PKHD1 mutations. 12846734 2003
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Forty-seven ARPKD and 14 pedigrees with congenital hepatic fibrosis and/or Caroli's disease, were screened for PKHD1 mutations. 12846734 2003
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454 2003
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454 2003
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. 12925574 2003
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Molecular genetics of autosomal recessive polycystic kidney disease. 14741187 2004
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. 14971004 2004
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. 14971004 2004
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). 15108277 2004
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). 15108277 2004
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Given the limitations of antenatal ultrasound, this is only feasible by molecular genetics that became possible in 1994 when PKHD1, the locus for ARPKD, was mapped to chromosome 6p. 15108281 2004
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Given the limitations of antenatal ultrasound, this is only feasible by molecular genetics that became possible in 1994 when PKHD1, the locus for ARPKD, was mapped to chromosome 6p. 15108281 2004
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. 15696446 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 GeneticVariation disease CLINVAR Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). 15706593 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). 15706593 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		1.000 CausalMutation disease CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161 2005