Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperexplexia
CUI: C0234166
Disease: Hyperexplexia
0.030 GeneticVariation BEFREE The previously identified hyperekplexia mutation GLRA1(P250T), located within the intracellular TM1-2 loop of the GlyR alpha1 subunit, results in altered receptor activation and desensitization. 15489161 2004
Hyperexplexia
CUI: C0234166
Disease: Hyperexplexia
0.030 GeneticVariation BEFREE Different from the dominant trait of clinical hyperekplexia associated with GLRA1 (P250T), wildtype subunits dominated the functional properties of mixed receptor complexes in the recombinant system. 12359314 2002
Hyperexplexia
CUI: C0234166
Disease: Hyperexplexia
0.030 GeneticVariation BEFREE Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. 9920650 1999
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
0.010 GeneticVariation BEFREE The mutant allele GLRA1 (P250T) of the glycine receptor alpha1 subunit gene underlies a dominant form of the human neurological disorder, hyperekplexia. 12359314 2002