GLRB, glycine receptor beta, 2743

N. diseases: 39; N. variants: 8
Disease: HYPEREKPLEXIA 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 GeneticVariation disease UNIPROT Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. 23238346 2013
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 Biomarker disease GENOMICS_ENGLAND Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. 23238346 2013
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 CausalMutation disease CLINVAR GLRB is the third major gene of effect in hyperekplexia. 23184146 2013
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 Biomarker disease GENOMICS_ENGLAND Novel mutation in GLRB in a large family with hereditary hyperekplexia. 21391991 2012
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 GeneticVariation disease UNIPROT Novel mutation in GLRB in a large family with hereditary hyperekplexia. 21391991 2012
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 Biomarker disease GENOMICS_ENGLAND Novel mutation in GLRB in a large family with hereditary hyperekplexia. 21391991 2012
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 Biomarker disease GENOMICS_ENGLAND Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). 11929858 2002
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 GeneticVariation disease UNIPROT Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). 11929858 2002
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 Biomarker disease MGD Increased startle responses in mice carrying mutations of glycine receptor subunit genes. 8733750 1996
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 Biomarker disease MGD Spastic, an hereditary neurological mutation in the mouse characterized by vertebral arthropathy and leptomeningeal cyst formation. 4323808 1970
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		0.800 GeneticVariation disease CLINVAR