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 Biomarker disease CTD_human
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.100 Biomarker disease HPO
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.100 Biomarker disease HPO
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		0.100 Biomarker disease HPO
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		0.100 Biomarker phenotype HPO
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		0.100 Biomarker phenotype HPO
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C4023073
Disease: EEG with temporal focal spikes
EEG with temporal focal spikes 		0.100 Biomarker phenotype HPO
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 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: 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.070 Biomarker group BEFREE While ARHGEF9 appears to be an uncommon cause of mental retardation in males, it should be considered in patients with mental retardation and sensory hyperarousal. 17893116 2008
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.040 Biomarker disease BEFREE While ARHGEF9 appears to be an uncommon cause of mental retardation in males, it should be considered in patients with mental retardation and sensory hyperarousal. 17893116 2008
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 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: 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.070 GeneticVariation group BEFREE A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. 18615734 2009