AutismKB

Evidence Detail for DRD3


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Basic Information Top
Gene Symbol:DRD3 ( D3DR,ETM1,FET1,MGC149204,MGC149205 )
Gene Full Name: dopamine receptor D3
Band: 3q13.3
Quick LinksEntrez ID:1814; OMIM: 126451; Uniprot ID:DRD3_HUMAN; ENSEMBL ID: ENSG00000151577
Sequences Top
>DRD3|1814|nucleotide
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>DRD3|1814|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 2 (2) 0 (0) 0 (0) 1 (1) 1 (1) 1 (1) 23 (6)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Toma, 2012_1 Spanish 1 (detail) 326
(16.87%)
ASD 17
-
- 350
(16.86%)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
de Krom, 2008_1 Discovery 2 (detail) 144
(17.36%)
ASD -
(4-18)
- 404
(-)
-
-
de Krom, 2008_2 Replication 2 (detail) 128
(14.06%)
ASD -
(4-18)
- 273
(-)
-
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Staal, 2011_1 human bloodASD genotype-phenotype interaction
  • Subjects: 144 patients
  • Normal Controls: -
  • Methods: SPSS ver 15
  • Evidence Details: Individuals carrying the AA variant of the rs167771 SNP scored significantly higher on the IS-factor , indicating more rigid behavior than individuals carrying one or two copies of the minor G-allele. There was no significant difference between the subgroups on the RSMB-factor. Also, there was no association between allele variant and total score on the social domain of the ADI-R
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000143 3q13.2-13.31 3 - - 5.58 - Allen-Brady, 2008

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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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