Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.700 Biomarker group 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 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.700 Biomarker group CTD_human Haploinsufficiency of the Shank3 gene, which encodes a scaffolding protein at glutamatergic synapses, is a highly prevalent and penetrant risk factor for autism. 26027926 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.700 Biomarker group CTD_human Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators. 26027926 2016
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.700 Biomarker group 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: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.700 Biomarker group CTD_human Recent studies of disorder reported that variants of the CNTNAP2 gene are associated both with language deficits in specific language impairment (SLI) and with language delays in autism. 21310003 2011
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.700 Biomarker group 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: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group 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
0.700 Biomarker group CTD_human The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker group CTD_human Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. 19211884 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker group CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.700 Biomarker group CTD_human A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. 18179894 2008
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.700 Biomarker group CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.700 Biomarker group CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.700 Biomarker group CTD_human We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility. 18179894 2008
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group CTD_human Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism. 14755444 2005
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group CTD_human Studies of the FMR1 gene on Xq27 have shown that occasionally individuals, and particularly females, with the [CGG] repeat expansion and methylation mutation may present with autistic symptoms. 14755444 2005
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group CTD_human Previously, we have screened autism probands for mutations in regions of the FMR1 gene downstream of the [CGG] repeat and identified an intronic variant in the FMR1 gene, IVS10 + 14C-T, which was present at a significantly higher frequency in autistic individuals compared to controls individuals. 14755444 2005
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group CTD_human Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. 15000256 2004
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group CTD_human Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256 2004
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group CTD_human We screened all 17 exons of the FMR1 gene for mutations in 90 autistic or mentally retarded children using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. 15000256 2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker group CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker group CTD_human We review the scanty literature data on the association of Cowden syndrome and autism and emphasize that the association of progressive macrocephaly and pervasive developmental disorder seems to be an indication for screening for PTEN mutations. 11496368 2001
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group CTD_human We determined the CGG repeat length and AGG interruptions in the FMR1 gene in normal Chinese subjects and patients with infantile autism and mild mental retardation. 9806479 1999
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.700 Biomarker group CTD_human Both the normal subjects and the patients with autism have 53 CGG repeats in FMR1, and the majority have two interspersed AGG. 9806479 1999