Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 57680
Gene Symbol: CHD8
CHD8 		0.700 Biomarker disease GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 Biomarker disease 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 		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 Biomarker disease 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 		0.700 Biomarker disease CTD_human Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 17322880 2007
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10716
Gene Symbol: TBR1
TBR1 		0.650 Biomarker disease GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
Entrez Id: 10716
Gene Symbol: TBR1
TBR1 		0.650 Biomarker disease CTD_human
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.530 Biomarker disease CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008
Entrez Id: 50944
Gene Symbol: SHANK1
SHANK1 		0.530 Biomarker disease 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 		0.530 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.500 Biomarker disease 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 		0.500 Biomarker disease CTD_human A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329 2014
Entrez Id: 4128
Gene Symbol: MAOA
MAOA 		0.500 Biomarker disease 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 		0.500 Biomarker disease 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 		0.500 Biomarker disease 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 		0.500 Biomarker disease 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 		0.500 Biomarker disease 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 		0.500 Biomarker disease 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 		0.500 Biomarker disease CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.500 Biomarker disease CTD_human The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		0.500 Biomarker disease CTD_human Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 19404257 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.500 Biomarker disease CTD_human Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. 19211884 2009
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008