AutismKB

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
>DRD4|1815|nucleotide
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>DRD4|1815|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
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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