Aliases: CMD1I, CSM1, CSM2, LGMD2R.
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 | |
| Dilated Cardiomyopathy 1I | causative |
mechanism: DES Variant in the Desmin Intermediate Filament
|
| Myofibrillar Myopathy | causative |
mechanism: Z-Disc and Chaperone Protein Variant
subtype: MFM1
scoped to subtype: MFM1
|
| Restrictive Cardiomyopathy | causative |
mechanism: Sarcomeric or Cytoskeletal Variant with Increased Myofilament Tension
|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
| KLHL24-Related Hypertrophic Cardiomyopathy | no genetic record |
mechanism: Failure of Desmin Intermediate Filament Turnover
|
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 1I MONDO:0011482 | AD | Definitive 2026-03-04 |
Dilated Cardiomyopathy 1I
causative
|
| arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | AD | Moderate 2018-09-11 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.