Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		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
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		0.710 GeneticVariation disease CLINVAR ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. 28589176 2017
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		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
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		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
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		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
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		0.710 GeneticVariation disease UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		0.710 CausalMutation disease CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		0.710 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. 21633362 2011
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		0.710 CausalMutation disease CLINVAR A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. 18615734 2009
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		0.710 Biomarker disease GENOMICS_ENGLAND ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. 17893116 2008
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		0.710 CausalMutation disease CLINVAR ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. 17893116 2008
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		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
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		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
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		0.710 Biomarker disease CTD_human
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.320 Biomarker disease BEFREE Therefore, ARHGEF9 is likely to be responsible for syndromic X-linked mental retardation associated with epilepsy. 21633362 2011
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.320 Biomarker disease CTD_human Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses. 21807943 2011
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.320 GeneticVariation disease BEFREE Consequently, we sequenced the coding exons and intron/exon borders of the ARHGEF9 gene in 99 probands from families with X linked mental retardation (XLMR) and 477 mentally retarded males in whom a diagnosis of Fragile X syndrome had been excluded. 17893116 2008
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 GeneticVariation disease BEFREE Mutations or disruption of ARHGEF9 due to chromosomal rearrangements have been found in three patients with various clinical presentations: nevertheless, all 3 presented with MR and 2 with epilepsy. 21626670 2011
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 GeneticVariation disease BEFREE A cohort study of ARHGEF9 nucleotide sequence identified a nonsense mutation in another male patient with severe mental retardation and epilepsy. 21633362 2011
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 GeneticVariation disease BEFREE ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation. 29130122 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO