CDH2

cadherin 2

3 disorders 1 unknown 1 causative 1 untyped 18q12.1 gene with protein product

HGNC:1759 Monarch NCBI Gene 1000 ENSG00000170558 UniProt P19022 OMIM 114020

Previous symbols: NCAD. Aliases: CDHN, CD325.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
arrhythmogenic right ventricular cardiomyopathy	unknown germline	mechanism: Intercalated-disc adhesion failure
CDH2-Related ACOG Syndrome	causative de novo	animal model: Mouse diagnosis: Exome or genome sequencing with de novo CDH2 variant interpretation
Dilated Cardiomyopathy	untyped Pathogenic Variants	mechanism: Sarcomeric and Cytoskeletal Dysfunction

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
dilated cardiomyopathy MONDO:0005021	AD	Limited 2025-05-16	Dilated Cardiomyopathy untyped
arrhythmogenic right ventricular cardiomyopathy MONDO:0016587	AD	Limited 2018-07-13	arrhythmogenic right ventricular cardiomyopathy unknown
agenesis of corpus callosum, cardiac, ocular, and genital syndrome MONDO:0030065	AD	Definitive 2026-03-20	CDH2-Related ACOG Syndrome causative

Mechanism modules · computed from kb/

reelin_terminal_translocation_lamination_failure named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.