×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.700
GeneticVariation
disease
BEFREE
Disruptive CHD8 mutations define a subtype of autism early in development.
24998929
2014
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.700
GeneticVariation
disease
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
0.700
AlteredExpression
disease
BEFREE
Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.
22504536
2012
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.700
Biomarker
disease
BEFREE
The autism -associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.
25752243
2015
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.700
CausalMutation
disease
CLINVAR
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
22495309
2012
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
GeneticVariation
disease
BEFREE
Sequence variants in NRXN1 are associated with differences in cognition, and with schizophrenia and autism .
22832527
2011
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.700
GeneticVariation
disease
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:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
GeneticVariation
disease
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
0.700
Biomarker
disease
BEFREE
The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism .
28671691
2017
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.700
CausalMutation
disease
CLINVAR
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
23160955
2012
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
GeneticVariation
disease
LHGDN
Neurexin 1alpha structural variants associated with autism.
18490107
2008
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.700
Biomarker
disease
CTD_human
Excess of rare, inherited truncating mutations in autism.
25961944
2015
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
Biomarker
disease
CTD_human
Identifying autism loci and genes by tracing recent shared ancestry.
18621663
2008
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
GeneticVariation
disease
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:
57680
Gene Symbol:
CHD8
CHD8
0.700
Biomarker
disease
HPO
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
GeneticVariation
disease
BEFREE
A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism .
21626680
2011
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
GeneticVariation
disease
BEFREE
Deletions within the neurexin 1 gene (NRXN1 ; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia.
18945720
2009
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
Biomarker
disease
CTD_human
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
17322880
2007
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.700
CausalMutation
disease
CLINVAR
Disruptive CHD8 mutations define a subtype of autism early in development.
24998929
2014
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
GeneticVariation
disease
BEFREE
Mutations in neurexin 1 (NRXN1 ) as well as two other members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and mutations in NLGN4 have also been associated with intellectual disability, seizures, and EEG abnormalities.
22106001
2012
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
GeneticVariation
disease
BEFREE
The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism , intellectual disabilities, and psychiatric disorders.
21739571
2011
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.700
GeneticVariation
disease
LHGDN
Disruption of neurexin 1 associated with autism spectrum disorder.
18179900
2008
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.700
Biomarker
disease
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
0.700
GeneticVariation
disease
BEFREE
Interestingly, there was a statistically significant association of neurexin-1 SNP P300P (rs2303298 ) with risk of autism (26.2% vs. 13.8%; χ(2) = 22.487; p = 3.45E-006; OR = 2.152 (1.559-2.970)).
22405623
2012