ANO3, anoctamin 3, 63982

N. diseases: 37; N. variants: 9
Disease: Cervical Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		0.010 GeneticVariation phenotype BEFREE Subsequent screening of these candidate causal variants in a large number of familial and sporadic cases of cervical dystonia led to the identification of a total of six putatively pathogenic mutations in ANO3, a gene encoding a predicted Ca(2+)-gated chloride channel that we show to be highly expressed in the striatum. 23200863 2012