TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Cardiomyopathy, Hypertrophic, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 28356264 2017
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132 2014
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation 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
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. 21799269 2011
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Genetic basis of end-stage hypertrophic cardiomyopathy. 21896538 2011
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453 2006
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China. 15992656 2005
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845 2005
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392 2004
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		0.720 GeneticVariation BEFREE The near N-terminal region (cRp; residues 34-71) contains the protein kinase C (PKC) phosphorylation sites S41 and S43, the inhibitory region (cIp; residues 128-147) contains another PKC site T142 and a familial hypertrophic cardiomyopathy (FHC) mutation R144G, and the switch region (cSp; residues 147-163) contains the novel p21-activated kinase (PAK) site S149 and another FHC mutation R161W. 14661957 2003
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Functional consequences of the six mutations (R145G, R145Q, R162W, DeltaK183, G203S, K206Q) in cardiac troponin I (cTnI) that cause familial hypertrophic cardiomyopathy (HCM) were studied using purified recombinant human cTnI. 11735257 2001
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		0.720 GeneticVariation BEFREE We have analyzed the functional effects of two HCM mutations (R145G and R162W) using purified recombinant cTnI. 10806205 2000
dbSNP: rs368861241
rs368861241
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997