Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		0.500 Biomarker disease 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: 4128
Gene Symbol: MAOA
MAOA 		0.500 Biomarker disease CTD_human In this study we genotyped the MAOA promoter polymorphism in a group of 29 males (age 2-3 years) with autism and a group of 39 healthy pediatric controls for whom brain MRI data was available. 18361446 2008
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
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: 2332
Gene Symbol: FMR1
FMR1 		0.500 Biomarker disease 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 2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.500 Biomarker disease CTD_human These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study. 15211631 2004
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: 4128
Gene Symbol: MAOA
MAOA 		0.500 Biomarker disease CTD_human We conclude that functional MAOA-uVNTR alleles may act as a genetic modifier of the severity of autism in males. 12919132 2003
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: 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: 7337
Gene Symbol: UBE3A
UBE3A 		0.500 Biomarker disease CTD_human We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid (GABA(A)) receptor subunit genes (GABRB3, GABRA5, and GABRG3). 11543639 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.500 Biomarker disease 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 		0.500 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: 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: 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: 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: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.430 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
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: 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: 140733
Gene Symbol: MACROD2
MACROD2 		0.430 Biomarker disease CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923 2010