Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease BEFREE Autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes <i>PKD1</i> or <i>PKD2</i> (encoding polycystin-1 and polycystin-2, respectively) and ARPKD caused by <i>PKHD1</i> (encoding fibrocystin/polyductin [FPC]). 31427367 2019
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease CLINVAR Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. 26453610 2016
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease CLINVAR Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease. 26632257 2015
Autosomal Recessive Polycystic Kidney Disease
0.360 CausalMutation disease CLINVAR Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. 25333066 2014
Autosomal Recessive Polycystic Kidney Disease
0.360 Biomarker disease MGD Downregulating hedgehog signaling reduces renal cystogenic potential of mouse models. 24700869 2014
Autosomal Recessive Polycystic Kidney Disease
0.360 CausalMutation disease CLINVAR Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. 24374109 2014
Autosomal Recessive Polycystic Kidney Disease
0.360 Biomarker disease BEFREE Biallelic inheritance of abnormalities of PKD1 may causextremely severe disease resembling autosomal recessive polycystic kidney disease (ARPKD) which can result indiagnostic confusion. 23624871 2013
Autosomal Recessive Polycystic Kidney Disease
0.360 CausalMutation disease CLINVAR A missense mutation in PKD1 attenuates the severity of renal disease. 22031115 2012
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease CLINVAR Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176 2012
Autosomal Recessive Polycystic Kidney Disease
0.360 CausalMutation disease CLINVAR Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176 2012
Autosomal Recessive Polycystic Kidney Disease
0.360 CausalMutation disease CLINVAR Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. 21551026 2011
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease BEFREE Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset disease caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early and severe phenotype that can be clinically indistinguishable from autosomal recessive polycystic kidney disease (ARPKD). 22034641 2011
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease BEFREE Clinically, a small percentage of TSC patients develop severe infantile polycystic kidney disease (PKD), which is believed to be caused by deletion of the contiguous TSC2 and PKD1 genes on human chromosome 16. 19692352 2009
Autosomal Recessive Polycystic Kidney Disease
0.360 CausalMutation disease CLINVAR Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. 17574468 2007
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161 2007
Autosomal Recessive Polycystic Kidney Disease
0.360 CausalMutation disease CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161 2007
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease CLINVAR Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. 17574468 2007
Autosomal Recessive Polycystic Kidney Disease
0.360 Biomarker disease MGD Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. 11818962 2002
Autosomal Recessive Polycystic Kidney Disease
0.360 CausalMutation disease CLINVAR Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. 11115377 2001
Autosomal Recessive Polycystic Kidney Disease
0.360 CausalMutation disease CLINVAR Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. 10729710 2000
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease BEFREE Renal tubules are predisposed to cystogenesis when a germ line mutation is inherited in either the human PKD1 or PKD2 genes in autosomal dominant polycystic kidney disease (ADPKD) or when a homozygous mutation in Tg737 is inherited in the orpk mouse model of autosomal recessive polycystic kidney disease (ARPKD). 10200981 1999
Autosomal Recessive Polycystic Kidney Disease
0.360 GeneticVariation disease BEFREE Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. 7894481 1994