Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.500 Biomarker disease 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: 54413
Gene Symbol: NLGN3
NLGN3 		0.500 Biomarker disease CTD_human Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. 12669065 2003
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: 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: 2332
Gene Symbol: FMR1
FMR1 		0.500 Biomarker disease 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 1998
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: 57502
Gene Symbol: NLGN4X
NLGN4X 		0.500 Biomarker disease CTD_human Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. 12669065 2003
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: 54413
Gene Symbol: NLGN3
NLGN3 		0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
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: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		0.460 Biomarker disease CTD_human All together, our results indicate that mutations in IL1RAPL1 cause a spectrum of neurological impairments ranging from MR to high functioning autism. 18801879 2008
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE 		0.460 Biomarker disease CTD_human
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		0.460 Biomarker disease CTD_human Mutations or deletions in IL1RAPL1 have been previously reported in three families with autism. 20437600 2010
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		0.450 Biomarker disease CTD_human Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.450 Biomarker disease CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686 2003
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.440 Biomarker disease CTD_human The JARID1C-regulated genes SCN2A, CACNA1H, BDNF, and SLC18A1 have previously been associated with autism and cognitive dysfunction. 18203167 2008
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.430 Biomarker disease CTD_human Functional impact of global rare copy number variation in autism spectrum disorders. 20531469 2010
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1 		0.430 Biomarker disease CTD_human Our findings support the recent notions that PTCHD1 may play a role in X-linked intellectual disability (XLID) and autism disorders. 21091464 2011
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		0.430 Biomarker disease CTD_human An Australian patient with autism was found to be heterozygous for two mutations in the gene encoding adenylosuccinate lyase (ASL), resulting in the protein mutations E80D and D87E. 15471876 2004
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7 		0.430 Biomarker disease CTD_human Molecular analysis of nicotinic receptor expression in autism. 15046869 2004
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2 		0.430 Biomarker disease CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923 2010
Entrez Id: 1312
Gene Symbol: COMT
COMT 		0.430 Biomarker disease CTD_human Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. 16917939 2006
Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C 		0.420 Biomarker disease CTD_human Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. 17290275 2007
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		0.420 Biomarker disease CTD_human Elevated cytokine levels in children with autism spectrum disorder. 16360218 2006