×
Entrez Id: 438
Gene Symbol: ASMT
ASMT
0.340
Biomarker
disease
CTD_human
Abnormal melatonin synthesis in autism spectrum disorders.
17505466 2008
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
0.400
Biomarker
disease
CTD_human
Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism.
14659996 2003
×
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2
0.400
Biomarker
disease
CTD_human
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.
17033973 2006
×
Entrez Id: 324
Gene Symbol: APC
APC
0.310
Biomarker
disease
CTD_human
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
8071957 1994
×
Entrez Id: 4163
Gene Symbol: MCC
MCC
0.300
Biomarker
disease
CTD_human
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
8071957 1994
×
Entrez Id: 6343
Gene Symbol: SCT
SCT
0.330
Therapeutic
disease
CTD_human
After administration of secretin , the Autism Diagnostic Interview-Revised (ADI-R) score improved in 7 of the 12 children.
16168596 2006
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: 170572
Gene Symbol: HTR3C
HTR3C
0.310
Biomarker
disease
CTD_human
Allelic variants in HTR3C show association with autism .
19035560 2009
×
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
0.300
Biomarker
disease
CTD_human
Altered gene expression and function of peripheral blood natural killer cells in children with autism.
18762240 2009
×
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
0.300
Biomarker
disease
CTD_human
Altered gene expression and function of peripheral blood natural killer cells in children with autism.
18762240 2009
×
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
SLC25A12
0.400
Biomarker
disease
CTD_human
An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene.
18348195 2008
×
Entrez Id: 3676
Gene Symbol: ITGA4
ITGA4
0.330
Biomarker
disease
CTD_human
An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene.
18348195 2008
×
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: 85458
Gene Symbol: DIXDC1
DIXDC1
0.310
Biomarker
disease
CTD_human
Analysis of DIXDC1 in over 9000 cases of autism , bipolar disorder and schizophrenia reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls.
27752079 2018
×
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1
0.330
Biomarker
disease
CTD_human
Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1 ; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant.
15523497 2005
×
Entrez Id: 5444
Gene Symbol: PON1
PON1
0.320
Biomarker
disease
CTD_human
As predicted, Caucasian-American and not Italian families display a significant association between autism and PON1 variants less active in vitro on the OP diazinon (R192), according to case-control contrasts (Q192R: chi2=6.33, 1 df, P<0.025), transmission/disequilibrium tests (Q192R: TDT chi2=5.26, 1 df, P<0.025), family-based association tests (Q192R and L55M: FBAT Z=2.291 and 2.435 respectively, P<0.025), and haplotype-based association tests (L55/R192: HBAT Z=2.430, P<0.025).
16027737 2005
×
Entrez Id: 27044
Gene Symbol: SND1
SND1
0.320
Biomarker
disease
CTD_human
Association analysis showed significant associations in MKL2 with ASD (rs756472, P=4.31 x 10(-5)) and between SND1 and strict autism (rs1881084, P=7.76 x 10(-5)) in the Finnish and Northern Dutch populations, respectively.
20442744 2010
×
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
0.400
Biomarker
disease
CTD_human
Association between a GABRB3 polymorphism and autism .
11920158 2002
×
Entrez Id: 5743
Gene Symbol: PTGS2
PTGS2
0.320
Biomarker
disease
CTD_human
Association between PTGS2 polymorphism and autism spectrum disorders in Korean trios.
18579107 2008
×
Entrez Id: 5307
Gene Symbol: PITX1
PITX1
0.310
Biomarker
disease
CTD_human
Association between SNPs and autism was only detected for PITX1 .
18053270 2007
×
Entrez Id: 5021
Gene Symbol: OXTR
OXTR
0.400
Biomarker
disease
CTD_human
Association between the oxytocin receptor (OXTR ) gene and autism : relationship to Vineland Adaptive Behavior Scales and cognition.
17893705 2008
×
Entrez Id: 3628
Gene Symbol: INPP1
INPP1
0.300
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: 5187
Gene Symbol: PER1
PER1
0.310
Biomarker
disease
CTD_human
Association of Per1 and Npas2 with autistic disorder : support for the clock genes/social timing hypothesis.
17264841 2007
×
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
0.300
Biomarker
disease
CTD_human
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.
16946189 2006