HYPEREKPLEXIA 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
|
23238346 |
2013 |
HYPEREKPLEXIA 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
|
23238346 |
2013 |
HYPEREKPLEXIA 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
GLRB is the third major gene of effect in hyperekplexia.
|
23184146 |
2013 |
HYPEREKPLEXIA 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel mutation in GLRB in a large family with hereditary hyperekplexia.
|
21391991 |
2012 |
HYPEREKPLEXIA 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutation in GLRB in a large family with hereditary hyperekplexia.
|
21391991 |
2012 |
HYPEREKPLEXIA 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel mutation in GLRB in a large family with hereditary hyperekplexia.
|
21391991 |
2012 |
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 |
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 |
HYPEREKPLEXIA 2
|
0.800 |
Biomarker
|
disease |
MGD |
Increased startle responses in mice carrying mutations of glycine receptor subunit genes.
|
8733750 |
1996 |
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 |
HYPEREKPLEXIA 2
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
Hereditary Hyperexplexia
|
0.510 |
Biomarker
|
disease |
MGD |
Increased startle responses in mice carrying mutations of glycine receptor subunit genes.
|
8733750 |
1996 |
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 |
Hereditary Hyperexplexia
|
0.510 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
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 |
Hyperexplexia
|
0.150 |
GeneticVariation
|
phenotype |
BEFREE |
GLRB gene mutations (R50X/Q216fsx222) were identified, after which the patient was diagnosed with hyperekplexia.
|
23182654 |
2013 |
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 |
Hyperexplexia
|
0.150 |
GeneticVariation
|
phenotype |
BEFREE |
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
|
23238346 |
2013 |
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 |
Hyperexplexia
|
0.150 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Intellectual Disability
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.
|
22669415 |
2013 |
Intellectual Disability
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|