GNAL, G protein subunit alpha L, 2774

N. diseases: 41; N. variants: 14
Disease: Involuntary Movements ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		0.020 GeneticVariation phenotype BEFREE GNAL loss-of-function mutations are causally-associated with isolated dystonia, a movement disorder characterized by involuntary muscle contractions leading to abnormal postures. 31034808 2019
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		0.020 GeneticVariation phenotype BEFREE GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures. 24408567 2014