familial restrictive cardiomyopathy 1

Summary
Synonym
  • RCM1
  • restrictive cardiomyopathy 1
Definition
A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42.
Super Class
restrictive cardiomyopathy
Disease Ontology
DOID:0111425
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7137 TNNI3 troponin I3, cardiac type
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P19429 Troponin I, cardiac muscle

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025