rs1187336837, PKD2

N. diseases: 1
Disease: Polycystic Kidney, Autosomal Dominant ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176 2012
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007 2009
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.700 CausalMutation CLINVAR Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. 10411676 1999