Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918361
rs121918361
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		0.810 GeneticVariation UNIPROT Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability. 25678704 2015
dbSNP: rs121918361
rs121918361
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		0.810 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs121918361
rs121918361
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		0.810 GeneticVariation 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
dbSNP: rs121918361
rs121918361
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		0.810 GeneticVariation 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
dbSNP: rs121918361
rs121918361
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		G 0.810 CausalMutation CLINVAR
dbSNP: rs1135401795
rs1135401795
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		A 0.700 CausalMutation CLINVAR Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 28708303 2018
dbSNP: rs111810219
rs111810219
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C0002170
Disease:
Alopecia 		A 0.700 GeneticVariation GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
dbSNP: rs1569476483
rs1569476483
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		T 0.700 GeneticVariation CLINVAR ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. 28589176 2017
dbSNP: rs1569476483
rs1569476483
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		T 0.700 GeneticVariation CLINVAR Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism. 26834553 2015
dbSNP: rs1569476483
rs1569476483
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		T 0.700 GeneticVariation CLINVAR Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability. 25678704 2015
dbSNP: rs1135401795
rs1135401795
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs1135401795
rs1135401795
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		A 0.700 CausalMutation CLINVAR A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. 18615734 2009
dbSNP: rs1135401795
rs1135401795
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		A 0.700 CausalMutation CLINVAR ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. 17893116 2008
dbSNP: rs1556358991
rs1556358991
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1556389083
rs1556389083
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1556401714
rs1556401714
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1556401730
rs1556401730
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569458475
rs1569458475
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397514460
rs397514460
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C1845102
Disease:
Hyperekplexia and Epilepsy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1429108797
rs1429108797
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C0026106
Disease:
Mild Mental Retardation 		0.010 GeneticVariation BEFREE Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability. 30914922 2019