GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918408
rs121918408
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		T 0.800 CausalMutation CLINVAR Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes. 28122427 2017
dbSNP: rs121918408
rs121918408
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		T 0.800 CausalMutation CLINVAR Clinical Reasoning: A 35-year-old woman with hyperstartling, stiffness, and accidental falls: A startling diagnosis. 28138086 2017
dbSNP: rs121918408
rs121918408
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
dbSNP: rs121918409
rs121918409
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
dbSNP: rs121918410
rs121918410
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
dbSNP: rs121918411
rs121918411
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
dbSNP: rs121918412
rs121918412
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
dbSNP: rs121918413
rs121918413
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
dbSNP: rs199547699
rs199547699
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
dbSNP: rs281864919
rs281864919
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
dbSNP: rs281864919
rs281864919
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		T 0.800 CausalMutation CLINVAR Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. 25036534 2014
dbSNP: rs121918408
rs121918408
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
dbSNP: rs121918409
rs121918409
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
dbSNP: rs121918410
rs121918410
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
dbSNP: rs121918411
rs121918411
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
dbSNP: rs121918412
rs121918412
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
dbSNP: rs121918413
rs121918413
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
dbSNP: rs199547699
rs199547699
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
dbSNP: rs199547699
rs199547699
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		A 0.800 GeneticVariation CLINVAR New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
dbSNP: rs281864919
rs281864919
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
dbSNP: rs199547699
rs199547699
Entrez Id: 2741;112267935
Gene Symbol: GLRA1;LOC112267935
GLRA1;LOC112267935
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		A 0.800 GeneticVariation CLINVAR Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. 20631190 2010
dbSNP: rs281864919
rs281864919
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		T 0.800 CausalMutation CLINVAR Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. 20631190 2010
dbSNP: rs281864919
rs281864919
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		T 0.800 CausalMutation CLINVAR Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. 19732286 2009
dbSNP: rs121918410
rs121918410
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		C 0.800 CausalMutation CLINVAR Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia. 16236274 2006
dbSNP: rs281864919
rs281864919
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
CUI: C4551954
Disease:
HYPEREKPLEXIA 1 		T 0.800 CausalMutation CLINVAR Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia. 12169101 2002