GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Disease: Mild Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 GeneticVariation disease BEFREE In conclusion, a novel p.W170S mutation in the extracellular ligand binding domain of glycine receptor α1 subunit was detected in patients with hyperekplexia and mild mental retardation. 22264702 2012
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 CausalMutation disease CLINVAR