×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
Autistic Disorder
0.700
Biomarker
CTD_human
Excess of rare, inherited truncating mutations in autism.
25961944
2015
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
Autistic Disorder
0.700
Biomarker
GENOMICS_ENGLAND
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
23160955
2012
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
Autistic Disorder
0.700
Biomarker
CTD_human
At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia.
20157312
2011
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
Autistic Disorder
0.700
Biomarker
CTD_human
Identifying autism loci and genes by tracing recent shared ancestry.
18621663
2008
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
Autistic Disorder
0.700
Biomarker
CTD_human
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.
18057082
2008
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
Autistic Disorder
0.700
Biomarker
CTD_human
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
17322880
2007
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
Autistic Disorder
0.700
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
Autistic Disorder
0.700
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
10716
Gene Symbol:
TBR1
TBR1
Autistic Disorder
0.650
Biomarker
GENOMICS_ENGLAND
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
23160955
2012
×
Entrez Id:
10716
Gene Symbol:
TBR1
TBR1
Autistic Disorder
0.650
Biomarker
GENOMICS_ENGLAND
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
23160955
2012
×
Entrez Id:
10716
Gene Symbol:
TBR1
TBR1
Autistic Disorder
0.650
Biomarker
CTD_human
×
Entrez Id:
5080
Gene Symbol:
PAX6
PAX6
Autistic Disorder
0.530
Biomarker
CTD_human
Pax6 3' deletion results in aniridia, autism and mental retardation.
18322702
2008
×
Entrez Id:
50944
Gene Symbol:
SHANK1
SHANK1
Autistic Disorder
0.530
Biomarker
CTD_human
Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.
18272690
2008
×
Entrez Id:
50944
Gene Symbol:
SHANK1
SHANK1
Autistic Disorder
0.530
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
50944
Gene Symbol:
SHANK1
SHANK1
Autistic Disorder
0.530
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
85358
Gene Symbol:
SHANK3
SHANK3
Autistic Disorder
0.500
Biomarker
CTD_human
Using combined behavioral, electrophysiological, biochemical, imaging, and molecular approaches, we find that Shank3 -deficient mice exhibit autism -like social deficits and repetitive behaviors, as well as the significantly diminished NMDA receptor (NMDAR) synaptic function and synaptic distribution in prefrontal cortex.
26027926
2015
×
Entrez Id:
23394
Gene Symbol:
ADNP
ADNP
Autistic Disorder
0.500
Biomarker
CTD_human
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP .
24531329
2014
×
Entrez Id:
4128
Gene Symbol:
MAOA
MAOA
Autistic Disorder
0.500
Biomarker
CTD_human
We replicated and extended a previously reported association between autism severity and a functional polymorphism in the monoamine oxidase A (MAOA ) promoter region, MAOA -uVNTR, in a sample of 119 males, aged 2-13 years, with autism spectrum disorder from simplex families.
20573161
2011
×
Entrez Id:
26047
Gene Symbol:
CNTNAP2
CNTNAP2
Autistic Disorder
0.500
Biomarker
CTD_human
We propose that these CNTNAP2 variants increase susceptibility to SLI or autism when they occur together with other risk factors.
21310003
2011
×
Entrez Id:
7337
Gene Symbol:
UBE3A
UBE3A
Autistic Disorder
0.500
Biomarker
CTD_human
Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism .
20609483
2011
×
Entrez Id:
26047
Gene Symbol:
CNTNAP2
CNTNAP2
Autistic Disorder
0.500
Biomarker
CTD_human
At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2 ), which were previously implicated in specific language disorder, autism and schizophrenia.
20157312
2011
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Autistic Disorder
0.500
Biomarker
CTD_human
We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2 : MBD1, MBD2, MBD3, and MBD4.
19921286
2010
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Autistic Disorder
0.500
Biomarker
CTD_human
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism .
20425835
2010
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Autistic Disorder
0.500
Biomarker
CTD_human
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
18759867
2009
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Autistic Disorder
0.500
Biomarker
CTD_human
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
19265751
2009