Previous symbols: CMD2A. Aliases: TNNC1, CMH7, cTNI.
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 |
|---|---|---|
| Dilated Cardiomyopathy 1FF | causative |
mechanism: Heterozygous TNNI3 Variant Altering Cardiac Troponin I
|
| Dilated Cardiomyopathy 2A | causative |
mechanism: Biallelic TNNI3 Loss of Function
|
| Hypertrophic Cardiomyopathy 7 | causative |
mechanism: Cardiac Troponin I Inhibitory Dysfunction
animal model: Mouse (Mus musculus)
|
| Restrictive Cardiomyopathy | causative |
mechanism: Sarcomeric or Cytoskeletal Variant with Increased Myofilament Tension
subtype: RCM1
|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
| Hypertrophic Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomere Protein Mutations
|
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 | Definitive 2017-09-05 |
Hypertrophic Cardiomyopathy
untyped
|
| dilated cardiomyopathy 2A MONDO:0012746 | AR | Strong 2026-03-04 |
Dilated Cardiomyopathy 2A
causative
|
| dilated cardiomyopathy 1FF MONDO:0013211 | AD | Strong 2026-03-04 |
Dilated Cardiomyopathy 1FF
causative
|
| arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | AD | No Known Disease Relationship 2019-07-16 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.