TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Disease: Cardiomyopathy, Dilated, 1g ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. 29057560 2018
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation disease CLINVAR Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 27813223 2017
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene. 27868403 2017
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations. 28045975 2017
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 28611029 2017
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. 28877744 2017
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 28416588 2017
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901 2016
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768 2016
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation disease CLINVAR Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 27353043 2016
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546 2015
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 25500009 2015
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation disease CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546 2015
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 26315439 2015
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation disease CLINVAR Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 26084686 2015
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation disease CLINVAR Prevalence of Titin Truncating Variants in General Population. 26701604 2015
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation disease CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632 2015
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632 2015
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Biophysical characterization of naturally occurring titin M10 mutations. 25739468 2015
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR A rising titan: TTN review and mutation update. 24980681 2014
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Hereditary myopathy with early respiratory failure: occurrence in various populations. 23606733 2014
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 GeneticVariation disease CLINVAR MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 25214167 2014
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. 24636144 2014
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.100 CausalMutation disease CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473 2014