×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
Biomarker
disease
CTD_human
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
GeneticVariation
disease
UNIPROT
The vital importance of collybistin for inhibitory synaptogenesis is underlined by the discovery of a mutation (G55A) in exon 2 of the human collybistin gene (ARHGEF9 ) in a patient with clinical symptoms of both hyperekplexia and epilepsy .
15215304
2004
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
GeneticVariation
disease
BEFREE
The vital importance of collybistin for inhibitory synaptogenesis is underlined by the discovery of a mutation (G55A ) in exon 2 of the human collybistin gene (ARHGEF9 ) in a patient with clinical symptoms of both hyperekplexia and epilepsy .
15215304
2004
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
Biomarker
disease
GENOMICS_ENGLAND
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
17893116
2008
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
CausalMutation
disease
CLINVAR
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
17893116
2008
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
CausalMutation
disease
CLINVAR
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
18615734
2009
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
Biomarker
disease
GENOMICS_ENGLAND
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
21633362
2011
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
GeneticVariation
disease
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
CausalMutation
disease
CLINVAR
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
GeneticVariation
disease
UNIPROT
Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.
25678704
2015
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
GeneticVariation
disease
CLINVAR
Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.
25678704
2015
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
GeneticVariation
disease
CLINVAR
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.
26834553
2015
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
GeneticVariation
disease
CLINVAR
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
28589176
2017
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.710
CausalMutation
disease
CLINVAR
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
28708303
2018