×
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:
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:
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:
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
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
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
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:
2904
Gene Symbol:
GRIN2B
GRIN2B
0.430
Biomarker
disease
GENOMICS_ENGLAND
De novo mutations in epileptic encephalopathies.
23934111
2013