GLRB, glycine receptor beta, 2743

N. diseases: 39; N. variants: 8
Disease: Hyperexplexia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.150 GeneticVariation phenotype BEFREE In conjunction with the clinical observation that rare coding GLRB gene mutations are associated with the neurological disorder hyperekplexia characterized by a generalized startle reaction and agoraphobic behavior, our data provide evidence that non-coding, although functional GLRB gene polymorphisms may predispose to PD by increasing startle response and agoraphobic cognitions. 28167838 2017
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.150 GeneticVariation phenotype BEFREE GLRB gene mutations (R50X/Q216fsx222) were identified, after which the patient was diagnosed with hyperekplexia. 23182654 2013
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.150 Biomarker phenotype BEFREE GLRB itself does not seem to be a good candidate as it causes autosomal recessive hyperekplexia and no symptoms were found in the patient. 22669415 2013
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.150 GeneticVariation phenotype BEFREE Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. 23238346 2013
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.150 AlteredExpression phenotype BEFREE Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease. 10651857 2000
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.150 CausalMutation phenotype CLINVAR