Previous symbols: CMD1G. Aliases: CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5.
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 |
|---|---|---|
| Anthracycline-Induced Cardiomyopathy | susceptibility | |
| Bannayan-Riley-Ruvalcaba Syndrome | susceptibility germline | |
| Centronuclear Myopathy | causative |
mechanism: Titin truncation and sarcomeric backbone disruption
subtype: TTN-CNM
scoped to subtype: TTN-CNM
|
| Dilated Cardiomyopathy 1A | modifier | |
| Dilated Cardiomyopathy 1G | causative |
mechanism: TTN Truncating Variant in the A-Band
|
| Hypertrophic Cardiomyopathy 9 | disputed |
mechanism: Perturbed Titin-MURF1 Interaction and Enhanced Titin Degradation; Rare TTN Variants in Sarcomere-Negative Hypertrophic Cardiomyopathy
|
| Left ventricular noncompaction | unknown | |
| Multiminicore Disease | causative |
mechanism: Sarcomeric protein defect (TTN, MYH7)
subtype: Other
scoped to subtype: Other
|
| Myofibrillar Myopathy | causative |
mechanism: Z-Disc and Chaperone Protein Variant
subtype: MFM9
scoped to subtype: MFM9
|
| Dilated Cardiomyopathy |
untyped
Causative
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
| Heart Failure |
untyped
Causative
|
|
| Hypertrophic Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomere Protein Mutations
|
| Peripartum Cardiomyopathy |
untyped
Truncating variants in titin (TTN) are the most commonly identified genetic risk factor for PPCM, found in approximately 10-15% of cases.
|
|
| TTN-Related Myopathy, Dominant-Negative TTNsv |
untyped
Causative
|
mechanism: Impaired Titin-Mediated Passive Elasticity and Force Transmission; In-Frame TTNsv Produces Internally Deleted Titin; Internally Deleted Titin Disrupts Sarcomeric Architecture
|
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 |
|---|---|---|---|
| hypertrophic cardiomyopathy MONDO:0005045 | AD | Limited 2025-10-28 |
Hypertrophic Cardiomyopathy
untyped
|
| tibial muscular dystrophy MONDO:0010870 | AD | Moderate 2025-06-23 |
no dismech entry |
| myopathy, myofibrillar, 9, with early respiratory failure MONDO:0011362 | AD | Definitive 2025-06-23 |
no dismech entry |
| dilated cardiomyopathy 1G MONDO:0011400 | AD | Definitive 2026-03-04 |
Dilated Cardiomyopathy 1G
causative
|
| arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | AD | Disputed 2025-10-28 |
|
| TTN-related myopathy MONDO:0100175 | AR | Definitive 2021-08-23 |
no dismech entry |
| TTN-related myopathy, dominant-negative TTNsv MONDO:1060225 | AD | Moderate 2026-02-23 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.