Evidence Detail for DRD4

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Basic Information Top
Gene Symbol:DRD4 ( D4DR )
Gene Full Name: dopamine receptor D4
Band: 11p15.5
Quick LinksEntrez ID:1815; OMIM: 126452; Uniprot ID:DRD4_HUMAN; ENSEMBL ID: ENSG00000069696
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (2) 0 (0) 0 (1) 3 (4) 23 (5)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Gadow, 2010_1 human bloodASD genetics: association study
  • Subjects: 66
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: the two genotype groups did not differ in either the distribution of ASD subtypes or in severity of each of the three core domains of ASD symptomatology
Emanuele, 2010_1 human blood--ASD RNA expression
  • Subjects: -
  • Normal Controls: -
  • Methods: -
  • Evidence Details: Post-hoc analysis showed significant differences between the control group and both musicians (P<0.05) and ASD individuals (P<0.05).
Gadow, 2011_1 human bloodASD genetics: association study
  • Subjects: 64
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: Parent-child DRD4 genotype as a potential biomarker for oppositional, anxiety, and repetitive behaviors in children with autism spectrum disorder
Reiersen, 2011_1 human bloodASD genotype-phenotype interaction
  • Subjects: 954 patients (583 male, 371 female)
  • Normal Controls: -
  • Methods: QTL Linkage analysis
  • Evidence Details: The DRD4 7-repeat allele was associated with high SRS score in individuals with a DSM_IV ADHD diagnosis(p=0.012);but not in individuals without DSM-IV ADHD(p=0.722)
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000561 11 11p15.5 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000562 11 11p15.5 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0004292 11 11p15.5 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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