DSG2

desmoglein 2

4 disorders 2 untyped 1 causative 1 unknown 18q12.1 gene with protein product

HGNC:3049 Monarch NCBI Gene 1829 ENSG00000046604 UniProt Q14126 OMIM 125671

Aliases: CDHF5.

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	causative germline	mechanism: Intercalated-disc adhesion failure
Left ventricular noncompaction	unknown
Dilated Cardiomyopathy	untyped Pathogenic Variants	mechanism: Sarcomeric and Cytoskeletal Dysfunction
Dilated Cardiomyopathy 1BB	untyped Causative	mechanism: DSG2 Loss of Function at the Cardiac Desmosome

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 1BB MONDO:0013030	AD	Limited 2026-03-04	Dilated Cardiomyopathy 1BB untyped
arrhythmogenic right ventricular cardiomyopathy MONDO:0016587	AD	Definitive 2018-09-14	arrhythmogenic right ventricular cardiomyopathy causative

Mechanism modules · computed from kb/

desmosomal_adhesion_failure via Dilated Cardiomyopathy 1BB

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