GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Disease: Autosomal Recessive Familial Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752201
Disease: Autosomal Recessive Familial Dystonia
Autosomal Recessive Familial Dystonia 		0.300 Biomarker disease CTD_human Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission. 17114051 2006