Evidence Detail for GDI1

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Basic Information Top

Gene Symbol:	GDI1 ( FLJ41411,GDIL,MRX41,MRX48,OPHN2,RABGD1A,RABGDIA,XAP-4 )
Gene Full Name:	GDP dissociation inhibitor 1
Band:	Xq28
Quick Links	Entrez ID:2664; OMIM: 300104; Uniprot ID:GDIA_HUMAN; ENSEMBL ID: ENSG00000203879

Sequences Top

nucleotide Sequence
Protein Sequence

>GDI1|2664|nucleotide
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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 (0)	1 (1)	9 (1)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

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

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

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

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

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
Piton, 2010_1	human	blood			ASD	genetics: mutation screen
Subjects: 142( 122 males and 20 females) Normal Controls: - Methods: direct sequencing Evidence Details: Exonic variants identified during the the screening of the 139 X-linked synapic genes

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
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0001526	X	Xq28	loss	1	-	CNVs Only Present In Patients;	Pinto, 2010
AutCNV0003870	X	23q28	gain	1	-	Denovo CNVs;	Levy, 2011

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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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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