Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 Biomarker CTD_human

Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker CTD_human

Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.410 Biomarker CTD_human

Entrez Id: 1977
Gene Symbol: EIF4E
EIF4E
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.320 Biomarker CTD_human

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: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.320 Biomarker CTD_human Autistic phenotype from MEF2C knockout cells. 19131610

2009
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.530 Biomarker CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702

2008
Entrez Id: 9855
Gene Symbol: FARP2
FARP2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker CTD_human FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. 19365831

2009
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker 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: 1814
Gene Symbol: DRD3
DRD3
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker CTD_human A common variant in DRD3 receptor is associated with autism spectrum disorder. 19058789

2009
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: 1812
Gene Symbol: DRD1
DRD1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.320 Biomarker CTD_human A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families. 18205172

2008
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker CTD_human A functional polymorphism in the reduced folate carrier gene and DNA hypomethylation in mothers of children with autism. 20468076

2010
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 Biomarker CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923

2010
Entrez Id: 9013
Gene Symbol: TAF1C
TAF1C
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 Biomarker CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923

2010
Entrez Id: 8128
Gene Symbol: ST8SIA2
ST8SIA2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923

2010
Entrez Id: 23078
Gene Symbol: VWA8
VWA8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923

2010
Entrez Id: 11281
Gene Symbol: POU6F2
POU6F2
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923

2010
Entrez Id: 200150
Gene Symbol: PLD5
PLD5
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker CTD_human A genome-wide scan for common alleles affecting risk for autism. 20663923

2010
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker CTD_human A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. 18057082

2008
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker CTD_human A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329

2014
Entrez Id: 438
Gene Symbol: ASMT
ASMT
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.340 Biomarker CTD_human Abnormal melatonin synthesis in autism spectrum disorders. 17505466

2008
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 Biomarker 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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 Biomarker CTD_human Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. 17033973

2006
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957

1994