×
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
Autistic Disorder
0.500
Biomarker
CTD_human
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
19404257 2009
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
CTD_human
Identifying autism loci and genes by tracing recent shared ancestry.
18621663 2008
×
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
Autistic Disorder
0.500
Biomarker
CTD_human
Identifying autism loci and genes by tracing recent shared ancestry.
18621663 2008
×
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
CTD_human
Identifying autism loci and genes by tracing recent shared ancestry.
18621663 2008
×
Entrez Id: 54413
Gene Symbol: NLGN3
NLGN3
Autistic Disorder
0.500
Biomarker
CTD_human
Identifying autism loci and genes by tracing recent shared ancestry.
18621663 2008
×
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
Autistic Disorder
0.500
Biomarker
CTD_human
Identifying autism loci and genes by tracing recent shared ancestry.
18621663 2008
×
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
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
Autistic Disorder
0.500
Biomarker
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
IL1RAPL1
Autistic Disorder
0.460
Biomarker
CTD_human
Mutations or deletions in IL1RAPL1 have been previously reported in three families with autism .
20437600 2010
IL1RAPL1
Autistic Disorder
0.460
Biomarker
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
Autistic Disorder
0.460
Biomarker
CTD_human
×
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
Autistic Disorder
0.450
Biomarker
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
Autistic Disorder
0.450
Biomarker
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
Autistic Disorder
0.440
Biomarker
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
Autistic Disorder
0.430
Biomarker
GENOMICS_ENGLAND
De novo mutations in epileptic encephalopathies.
23934111 2013