rs1553925453, PKD2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels. 29899465 2018
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT The polycystin complex mediates Wnt/Ca(2+) signalling. 27214281 2016
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant. 27071085 2016
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). 21115670 2011
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804 2005
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. 14993477 2004
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387 2003
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Polycystin-2 is an intracellular calcium release channel. 11854751 2002
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 11968093 2002
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. 10835625 2000
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. 10411676 1999
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. 10541293 1999
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 GeneticVariation UNIPROT A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). 9326320 1997
Polycystic kidney disease, type 2
CUI: C2751306
Disease: Polycystic kidney disease, type 2
0.800 CausalMutation CLINVAR
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis. 28356211 2017
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 25574838 2015
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. 23300259 2013
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161 2007
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome. 16540757 2006
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning. 17100995 2006
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804 2005
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR [Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph]. 15192819 2004
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 11968093 2002