TNNI3, troponin I3, cardiac type, 7137

N. diseases: 9; N. variants: 39
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. 24113344 2014
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy. 23270746 2013
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. 22876777 2012
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876 2011
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. 21799269 2011
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845 2005
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392 2004
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912 2003
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. 11735257 2001
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 GeneticVariation disease CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.900 CausalMutation disease CLINVAR