rs746231889, PRKCSH

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
0.010 GeneticVariation BEFREE We report here a family (a mother and her daughter) with a severe form of ADPLD not associated with ADPKD produced by a novel missense protein kinase C substrate 80K-H (PRKCSH) mutation (R281W). 16437702 2005