CDH22
Homo sapiens
Gene Name: cadherin-like 22
Aliases: C20orf25, MGC39564, dJ998H6.1
Chromosome No: 20
Chromosome Band: 20q13.12
Genetic Category: Genetic Association-Rare single gene variant
Aliases: C20orf25, MGC39564, dJ998H6.1
Chromosome No: 20
Chromosome Band: 20q13.12
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 1
Evidence score: null
ASD Reports: 7
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 1
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the CDH22 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
Support
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand
ASD
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
Highly Cited
The expression and cellular localization of brain/kidney protein in the rat retina.
Recent Recommendation
Differential regulation of B/K protein expression in proximal and distal tubules of rat kidneys with ischemia-reperfusion injury.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN043C001
intron_variant
rs6131030
c.1664-1150C>T;c.1301-1150C>T;c.1133-1150C>T;c.824-1150C>T
A to G
US and European
Discovery
GEN043C002
intron_variant
rs6131030
c.1664-1150C>T;c.1301-1150C>T;c.1133-1150C>T;c.824-1150C>T
Discovery cohort: 2165 participants from AGRE
Discovery
