Gene: TPM1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Clinically Divergent Mutation Effects on the Structure and Function of the Human Cardiac Tropomyosin Overlap. 28603979 2017
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy. 28600229 2017
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy. 27639548 2016
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940 2016
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome. 26960954 2016
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation. 27177193 2016
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies. 25548289 2015
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM. 25607779 2015
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615 2014
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR An epidemiologic investigation of physical activity and breast cancer risk in Africa. 25242052 2014
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population. 22462493 2013
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 GeneticVariation disease CLINVAR A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium. 23700264 2013
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503 2013
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease-causing myofilament mutations. 23771913 2013
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 GeneticVariation disease BEFREE Cardiac samples from patients with HCM harboring mutations in genes encoding thick (MYH7, MYBPC3) and thin (TNNT2, TNNI3, TPM1) filament proteins were compared with sarcomere mutation-negative HCM and nonfailing donors. 23508784 2013
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium. 23700264 2013
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 GeneticVariation disease BEFREE The familial hypertrophic cardiomyopathy mutation αTm E180G enhances Ca(2+)-sensitivity in functional assays. 22958892 2012
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 GeneticVariation disease BEFREE Cardiac α-tropomyosin (Tm) single-site mutations D175N and E180G cause familial hypertrophic cardiomyopathy (FHC). 22794249 2012
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Genetic variations of α-cardiac actin and cardiac muscle LIM protein in hypertrophic cardiomyopathy in South India. 23204897 2012
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 22112859 2012
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 GeneticVariation disease CLINVAR Genetic variations of α-cardiac actin and cardiac muscle LIM protein in hypertrophic cardiomyopathy in South India. 23204897 2012
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275 2011
Entrez Id: 7168
Gene Symbol: TPM1
TPM1 		0.500 CausalMutation disease CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320 2011