Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 Biomarker disease BEFREE The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex. 31230762 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 GeneticVariation disease BEFREE Genetic studies revealed that de novo heterozygous mutations of SCN2A caused severe developmental disorders in childhood, such as autism and epileptic encephalopathy. 29929112 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 GeneticVariation disease BEFREE The sodium channel, voltage-gated type II α subunit gene SCN2A has been shown to exhibit loss-of-function (LoF) mutations in individuals with seizure disorders, ID, autism and schizophrenia. 26555645 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 Biomarker disease BEFREE Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. 26196440 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 GeneticVariation disease BEFREE Of interest, de novo SCN2A mutations have also been reported in five patients without seizures but with ID (n = 3) and/or autism (n = 3). 24579881 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 CausalMutation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 GeneticVariation disease CLINVAR