TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 23663841 2013
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 27036851 2016
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288 2004
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach. 22334656 2012
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944 2000
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 22144547 2012
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR [Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene]. 17456375 2007
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322 2011
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536 2005
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523 1995
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR The chromosome, its anatomy, and its aberrations. 2003160 1991
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR IMAGE CARDIO MED: Inducible malignant ventricular tachyarrhythmia in a patient with genotyped hypertrophic cardiomyopathy in absence of left ventricular hypertrophy or enlargement. 19487599 2009
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice. 16326803 2005
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. 10617660 2000
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294 2001
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene. 8951566 1996
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 GeneticVariation disease CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945 2012
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 GeneticVariation disease CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		0.600 CausalMutation disease CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014