Disease: Autosomal Recessive Polycystic Kidney Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation disease CLINVAR [Neoplasic perineal implantation following needle biopsy (author's transl)]. 1189128 1975
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease BEFREE Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. 9503014 1998
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker disease BEFREE The locus PKHD1 (polycystic kidney and hepatic disease 1) has been linked to all typical forms of the autosomal recessive polycystic kidney disease (ARPKD) and maps to chromosome 6p21.1-p12. 10780780 2000
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker disease GENOMICS_ENGLAND Polycystic kidney rat is a novel animal model of Caroli's disease associated with congenital hepatic fibrosis. 11337358 2001
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease BEFREE Finally, the recent discoveries with the newly identified disease gene PKHD1, which causes autosomal recessive polycystic kidney disease, were also presented at the meeting. 12582469 2002
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease BEFREE We have identified PKHD1, the gene mutated in ARPKD. 11898128 2002
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation disease CLINVAR We have identified PKHD1, the gene mutated in ARPKD. 11898128 2002
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 SusceptibilityMutation disease RGD 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease UNIPROT 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease LHGDN A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease. 12079288 2002
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker disease BEFREE 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease UNIPROT We have identified PKHD1, the gene mutated in ARPKD. 11898128 2002
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease LHGDN 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
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker disease BEFREE This further refinement of the PKHD1 interval will facilitate efforts to identify the PKHD1 gene by positional cloning. 12116208 2002
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease CLINVAR We have identified PKHD1, the gene mutated in ARPKD. 11898128 2002
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454 2003
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation disease CLINVAR Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. 12874454 2003
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140 2003
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker disease BEFREE The localization of fibrocystin to cilia further strengthens that correlation and indicates that the primary defect in ARPKD may be linked to ciliary dysfunction. 12925574 2003
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease UNIPROT Forty-seven ARPKD and 14 pedigrees with congenital hepatic fibrosis and/or Caroli's disease, were screened for PKHD1 mutations. 12846734 2003
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 GeneticVariation disease BEFREE Based on these observations, the next challenges will be to determine how various factors, such as specific mutations in the ARPKD gene, PKHD1(polycystic kidney and hepatic disease 1), variations in modifying gene loci, modulation by as yet unspecified environmental factors, and/or gene-environment interactions contribute to the marked variability in survival and disease expression observed among ARPKD patients. 12728091 2003
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 CausalMutation disease CLINVAR Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. 12925574 2003