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 Links	Entrez ID:1814; OMIM: 126451; Uniprot ID:DRD3_HUMAN; ENSEMBL ID: ENSG00000151577

Sequences Top

nucleotide Sequence
Protein Sequence

>DRD3|1814|nucleotide
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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	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

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
No Evidence.

Case Control Based Association Studies: 1

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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
Reference	Stage	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
No Evidence.

Case Control Based Association Studies: 2

Reference	Stage	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Stage	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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	blood			ASD	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

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs	Evidence Type	Reference
Case	Control
No matched CNVs !

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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