Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. 29057560

2018

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 28416588

2017

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 28611029

2017

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene. 27868403

2017

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. 28877744

2017

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 GeneticVariation CLINVAR Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 27813223

2017

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations. 28045975

2017

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901

2016

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768

2016

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 GeneticVariation CLINVAR Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 27353043

2016

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Relevance of truncating titin mutations in dilated cardiomyopathy. 26777568

2016

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 GeneticVariation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 26315439

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 GeneticVariation CLINVAR Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 26084686

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 GeneticVariation CLINVAR Prevalence of Titin Truncating Variants in General Population. 26701604

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. 25500009

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Biophysical characterization of naturally occurring titin M10 mutations. 25739468

2015

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR A rising titan: TTN review and mutation update. 24980681

2014

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 CausalMutation CLINVAR A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. 24444549

2014

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100 GeneticVariation CLINVAR MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 25214167

2014