rs550921485, HPCA

N. diseases: 3
Disease: Dystonia Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
0.010 GeneticVariation BEFREE With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia). 28398555 2017