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: 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
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		0.510 GeneticVariation disease BEFREE This study presents a large family with HH as a result of homozygous mutation in GLRB and expands the clinical spectrum of HH to include eye misalignment disorder. 21391991 2012
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		0.510 Biomarker disease MGD Increased startle responses in mice carrying mutations of glycine receptor subunit genes. 8733750 1996
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		0.510 Biomarker disease MGD Spastic, an hereditary neurological mutation in the mouse characterized by vertebral arthropathy and leptomeningeal cyst formation. 4323808 1970
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		0.510 Biomarker disease CTD_human
CUI: C0477362
Disease: Other specified extrapyramidal and movement disorders
Other specified extrapyramidal and movement disorders 		0.200 Biomarker disease MGD Increased startle responses in mice carrying mutations of glycine receptor subunit genes. 8733750 1996
CUI: C0477362
Disease: Other specified extrapyramidal and movement disorders
Other specified extrapyramidal and movement disorders 		0.200 Biomarker disease MGD Spastic, an hereditary neurological mutation in the mouse characterized by vertebral arthropathy and leptomeningeal cyst formation. 4323808 1970
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: 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO