Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN Mutations in chromodomain helicase DNA-binding domain 8 (CHD8) have been identified in independent genotyping studies of autism spectrum disorder. 26789910 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN REST activation was also observed in the brains of humans with ASD, and CHD8 was found to interact physically with REST in the mouse brain. 27602517 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation. 24998929 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CTD_human Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation. 24998929 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway. 22083958 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease CLINGEN Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease CTD_human Excess of rare, inherited truncating mutations in autism. 25961944 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.600 GeneticVariation disease UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798 2015
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.600 GeneticVariation disease UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.490 Biomarker disease CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.490 Biomarker group CTD_human We suggested that this constituted a new multiple congenital anomaly-intellectual disability syndrome due to defects in CHD8 and/or SUPT16H. 30670789 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.490 Biomarker disease CTD_human Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
CUI: C0282631
Disease: Facies
Facies 		0.300 Biomarker group CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases 		0.300 Biomarker group CTD_human Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
CUI: C0559031
Disease: Functional Gastrointestinal Disorders
Functional Gastrointestinal Disorders 		0.300 Biomarker disease CTD_human Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
CUI: C1565321
Disease: Cholera Infantum
Cholera Infantum 		0.300 Biomarker disease CTD_human Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014