rs148812376, PKD1

N. diseases: 3
Disease: POLYCYSTIC KIDNEY DISEASE 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.700 GeneticVariation CLINVAR Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 26139440 2016
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.700 GeneticVariation CLINVAR Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.700 GeneticVariation CLINVAR Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 19165178 2009
POLYCYSTIC KIDNEY DISEASE 1
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
0.700 CausalMutation CLINVAR