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: rs1487813753
rs1487813753
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0085413
Disease:
Polycystic Kidney, Autosomal Dominant 		0.010 GeneticVariation BEFREE Furthermore, autosomal dominant polycystic kidney disease-associated TRPP2 mutant T448K significantly weakened TRPP2 homomeric assembly but had no obvious effect on TRPP2-PKD1 heteromeric assembly. 28154010 2017