KEGG   VARIANT: 7137v1
Entry
7137v1                      Variant                                
Name
TNNI3 mutation
Type
Loss of function
Gene
TNNI3  troponin I3, cardiac type [KO:K12044]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191044
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00294  Dilated cardiomyopathy
H01219  Restrictive cardiomyopathy
Reference
PMID:19590045
  Authors
Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H
  Title
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
  Journal
Circ Res 105:375-82 (2009)
DOI:10.1161/CIRCRESAHA.109.196055
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