Disease: Polycystic Kidney, Autosomal Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749004212
rs749004212
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease:
Polycystic Kidney, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease. 27782177 2016
dbSNP: rs749004212
rs749004212
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease:
Polycystic Kidney, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. 24374109 2014
dbSNP: rs749004212
rs749004212
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease:
Polycystic Kidney, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. 23300259 2013
dbSNP: rs749004212
rs749004212
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease:
Polycystic Kidney, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176 2012
dbSNP: rs749004212
rs749004212
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease:
Polycystic Kidney, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387 2003
dbSNP: rs749004212
rs749004212
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease:
Polycystic Kidney, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR Location of mutations within the PKD2 gene influences clinical outcome. 10760080 2000
dbSNP: rs749004212
rs749004212
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease:
Polycystic Kidney, Autosomal Dominant 		T 0.700 CausalMutation CLINVAR Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. 10541293 1999