Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality. 31302032

2019

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE 2p16.3 deletions, involving heterozygous NEUREXIN1 (NRXN1) deletion, dramatically increase the risk of developing neurodevelopmental disorders, including autism and schizophrenia. 31812984

2019

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. 31721432

2019

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Mutations in the CHD2 gene have been linked to developmental delay, intellectual disability, autism and seizures, CHD8 mutations to autism and intellectual disability, whereas haploinsufficiency of CHD7 is associated with executive dysfunction and intellectual disability. 30277262

2018

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons. 30574290

2018

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. 28671691

2017

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Rats with impaired social guidance of behavior due to knockout of Nrxn1, an analog of autism-associated gene NRXN, exhibited marked LA-MeA deficits. 28114293

2017

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE This case report supports the association of CHD8 mutations with classical autism, macrocephaly, infantile hypotonia, speech delay, lack of major ID, and psychopathology in late adolescence caused by insufficient dosage of CHD8. 26789910

2016

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE We describe a single case of an intragenic deletion of exons 26-28 in the CHD8 gene in a patient with autism and global developmental delay. 26921529

2016

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 CausalMutation CLINVAR A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 26789910

2016

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. 25752243

2015

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker CTD_human Excess of rare, inherited truncating mutations in autism. 25961944

2015

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes. 25989142

2015

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Heterozygous mutations of the NRXN1 gene, which encodes the presynaptic cell-adhesion molecule neurexin-1, were repeatedly associated with autism and schizophrenia. 26279266

2015

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Disruptive CHD8 mutations define a subtype of autism early in development. 24998929

2014

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 25257502

2014

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of neuropsychiatric and neurodevelopmental disorders, including autism, intellectual disability, epilepsy, developmental delay, and schizophrenia. 24633560

2014

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 CausalMutation CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929

2014

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Our cases expand the phenotype of biallelic α NRXN 1 mutations and emphasize the important role of NRXN1 in autism and intellectual disability. 25149956

2014

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses. 24064682

2013

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Autistic patients also presented overexpression of genes regulated by androgen receptor (AR), and AR itself, which in turn interacts with CHD8 (chromodomain helicase DNA binding protein 8), a gene recently shown to be associated with the cause of autism and found to be upregulated in some patients tested here. 23801657

2013

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Here, we identified deletions of the NRXN1 region in affected cohorts, confirming a strong association with the autism spectrum and other neurodevelopmental disorders. 23472757

2013

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Exonic deletions in NRXN1 have been associated with several neurodevelopmental disorders, including autism, schizophrenia and developmental delay. 23536886

2013

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. 23495017

2013

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Previous analyses of neurexin 1α (Nrxn1α) knockout (KO) mouse as a model of these disorders have revealed impairments in synaptic transmission but failed to reveal defects in social behaviour, one of the core symptoms of autism. 23840597

2013