AutismKB

Evidence Detail for PCDH9


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Basic Information Top
Gene Symbol:PCDH9 ( - )
Gene Full Name: protocadherin 9
Band: 13q21.32
Quick LinksEntrez ID:5101; OMIM: 603581; Uniprot ID:PCDH9_HUMAN; ENSEMBL ID: ENSG00000184226
Sequences Top
>PCDH9|5101|nucleotide
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>PCDH9|5101|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 (1) 0 (0) 2 (7) 0 (0) 0 (0) 0 (0) 4 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
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
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000106 13 13q21.32 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000197 13 13q21.1-21.32 gain 1 - CNVs Only Present In Patients; Daniel, 2007
AutCNV0000266 13 13q14-22 loss 1 - CNVs Only Present In Patients; Steele, 2001
AutCNV0000179 13 13q21.32 gain 1 - Other; Marshall, 2008
AutCNV0000180 13 13q21.32 gain 1 - Other; Marshall, 2008
AutCNV0001126 13 13q21.32 gain 1 - paternal Pinto, 2010
AutCNV0002818 13 13q21.32 loss 1 - maternal Pinto, 2010
AutCNV0003357 13 13q21.32 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004514 13 13q21.32 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0003693 13 13q21.32 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004867 13 13q21.32 Loss 2 0 Overlapping/Recurrent CNVs; CNVs Not Present In Control; Bucan, 2009
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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