Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome. 22277643 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. 21596231 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. 20458009 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. 21167004 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group CLINVAR Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. 18048769 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group CLINVAR Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities. 17442746 2007
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 GeneticVariation group CLINVAR Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 15671429 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.700 CausalMutation group CLINVAR Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325 1998
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.700 CausalMutation group CLINVAR
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.650 GeneticVariation group CLINVAR Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene. 25201647 2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572 2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075 2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death. 28669108 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy. 29367539 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). 24992688 2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503 2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 23383212 2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 24205113 2013