GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Disease: HYPEREKPLEXIA 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Clinical Reasoning: A 35-year-old woman with hyperstartling, stiffness, and accidental falls: A startling diagnosis. 28138086 2017
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes. 28122427 2017
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. 25036534 2014
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease CLINVAR New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130 2013
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. 20631190 2010
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease CLINVAR Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. 20631190 2010
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. 19732286 2009
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia. 16236274 2006
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families. 15771552 2004
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia. 12169101 2002
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C. 11389164 2001
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. 10514101 1999
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations. 10514101 1999
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. 9920650 1999
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel. 9009272 1997
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor. 9067762 1997
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. 8733061 1996
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. 8733061 1996
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. 8571969 1996
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Mutational analysis of familial and sporadic hyperekplexia. 7611730 1995
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT Mutational analysis of familial and sporadic hyperekplexia. 7611730 1995
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 GeneticVariation disease UNIPROT Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. 7925268 1994
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 CausalMutation disease CLINVAR Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor. 7518444 1994