GNAL, G protein subunit alpha L, 2774

N. diseases: 41; N. variants: 14
Disease: Segmental dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		0.010 GeneticVariation disease BEFREE Our findings corroborate those of a recent study which used whole-exome sequencing to identify missense and nonsense GNAL mutations in Caucasian pedigrees of mixed European ancestry with mainly adult-onset cervical and segmental dystonia. 23449625 2013