CDH9
Homo sapiens
Gene Name: cadherin 9, type 2 (T1-cadherin)
Aliases: MGC125386, cadherin-9
Chromosome No: 5
Chromosome Band: 5p14.1
Genetic Category: Genetic Association-Rare single gene variant
Aliases: MGC125386, cadherin-9
Chromosome No: 5
Chromosome Band: 5p14.1
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 7
Evidence score: 2
ASD Reports: 7
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the CDH9 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009).
Molecular Function
cell adhesion
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Positive Association
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.
ASD
Support
Segregated expressions of autism risk genes Cdh11 and Cdh9 in autism-relevant regions of developing cerebellum.
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Highly Cited
Identification of three human type-II classic cadherins and frequent heterophilic interactions between different subclasses of type-II classic cadh...
Recent Recommendation
Sequence, map position and genome organization of the RPL17B gene, encoding ribosomal protein L17b in Saccharomyces cerevisiae.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN045R001
missense_variant
c.1808A>G
p.Glu603Gly
Familial
Extended multiplex (at least one pair of ASD affec
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN045C007
intergenic_variant
rs4307059
C/T
Italian Autism Network (ITAN)
Discovery
GEN045C008
intergenic_variant
rs10038113
Discovery cohort: 2165 participants from AGRE
Discovery
GEN045C009
intergenic_variant
rs12518194
Discovery cohort: 2165 participants from AGRE
Discovery
GEN045C010
intergenic_variant
rs1896731
Discovery cohort: 2165 participants from AGRE
Discovery
GEN045C011
intergenic_variant
rs4307059
C/T
Discovery cohort: 2165 participants from AGRE
Discovery
GEN045C012
intergenic_variant
rs4327572
Discovery cohort: 2165 participants from AGRE
Discovery
GEN045C013
intergenic_variant
rs7704909
Discovery cohort: 2165 participants from AGRE
Discovery
