GLRB, glycine receptor beta, 2743

N. diseases: 39; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		0.100 Biomarker disease HPO
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 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 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 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 GeneticVariation disease CLINVAR
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 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 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 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: 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
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Partial deletion of GLRB and GRIA2 in a patient with intellectual disability. 22669415 2013
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO