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 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: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		0.510 Biomarker disease CTD_human
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 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 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 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: C0004106
Disease: Astigmatism
Astigmatism 		0.100 Biomarker disease HPO
CUI: C0014868
Disease: Esophagitis
Esophagitis 		0.100 Biomarker disease HPO
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.100 Biomarker disease HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		0.100 Biomarker disease HPO