Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51725
Gene Symbol: FBXO40
FBXO40
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 19404257

2009

Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Altered gene expression and function of peripheral blood natural killer cells in children with autism. 18762240

2009

Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human GABA(A) receptor downregulation in brains of subjects with autism. 18821008

2009

Entrez Id: 2556
Gene Symbol: GABRA3
GABRA3
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human GABA(A) receptor downregulation in brains of subjects with autism. 18821008

2009

Entrez Id: 3346
Gene Symbol: HTN1
HTN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Phosphorylation level of four specific salivary phospho-peptides, namely statherin, histatin 1 (both, p < 0.0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p < 0.005) was found significantly lower in autistic patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%). 19367726

2008

Entrez Id: 5618
Gene Symbol: PRLR
PRLR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Genes controlling affiliative behavior as candidate genes for autism. 18207134

2008

Entrez Id: 6332
Gene Symbol: SCN7A
SCN7A
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663

2008

Entrez Id: 6779
Gene Symbol: STATH
STATH
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Phosphorylation level of four specific salivary phospho-peptides, namely statherin, histatin 1 (both, p < 0.0001) and acidic proline-rich proteins (both entire and truncated isoforms) (p < 0.005) was found significantly lower in autistic patients, with hypo-phosphorylation of at least one peptide observed in 18 ASD subjects (66%). 19367726

2008

Entrez Id: 26056
Gene Symbol: RAB11FIP5
RAB11FIP5
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder. 18384058

2008

Entrez Id: 5329
Gene Symbol: PLAUR
PLAUR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder. 19360663

2008

Entrez Id: 3558
Gene Symbol: IL2
IL2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human We conclude that that 45% of a subgroup of children with autism suffers from low NK cell activity, and that low intracellular levels of glutathione, IL-2 and IL-15 may be responsible. 18929414

2008

Entrez Id: 5067
Gene Symbol: CNTN3
CNTN3
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663

2008

Entrez Id: 9025
Gene Symbol: RNF8
RNF8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663

2008

Entrez Id: 3600
Gene Symbol: IL15
IL15
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human We conclude that that 45% of a subgroup of children with autism suffers from low NK cell activity, and that low intracellular levels of glutathione, IL-2 and IL-15 may be responsible. 18929414

2008

Entrez Id: 1610
Gene Symbol: DAO
DAO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Association of the DAO and DAOA gene polymorphisms with autism spectrum disorders in boys in Korea: a preliminary study. 17629951

2007

Entrez Id: 151556
Gene Symbol: GPR155
GPR155
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. 17519220

2007

Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. 17883863

2007

Entrez Id: 3481
Gene Symbol: IGF2
IGF2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP. 17547689

2007

Entrez Id: 2950
Gene Symbol: GSTP1
GSTP1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human We genotyped GSTP1*G313A and GSTP1*C341T polymorphisms in 137 members of 49 families with AD. 17404132

2007

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Screening of male patients with autism spectrum disorder for creatine transporter deficiency. 18461508

2007

Entrez Id: 152789
Gene Symbol: JAKMIP1
JAKMIP1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. 17519220

2007

Entrez Id: 3486
Gene Symbol: IGFBP3
IGFBP3
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP. 17547689

2007

Entrez Id: 2690
Gene Symbol: GHR
GHR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP. 17547689

2007

Entrez Id: 6948
Gene Symbol: TCN2
TCN2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. 16917939

2006

Entrez Id: 3596
Gene Symbol: IL13
IL13
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker CTD_human Elevated cytokine levels in children with autism spectrum disorder. 16360218

2006