TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 78; N. variants: 567
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation group CLINVAR Neuromuscular transmission defects in myopathies: Rare but worth searching for. 30536954 2019
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		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 CausalMutation disease CLINVAR The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. 29057560 2018
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.100 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.100 CausalMutation disease CLINVAR Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 28416588 2017
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.100 CausalMutation disease CLINVAR Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 28611029 2017
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.100 CausalMutation disease CLINVAR Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene. 27868403 2017
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		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: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.100 GeneticVariation disease CLINVAR Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 27813223 2017
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		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 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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation group CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901 2016
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation group CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768 2016
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.100 CausalMutation disease CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901 2016
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.100 CausalMutation disease CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768 2016
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.100 GeneticVariation disease CLINVAR Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 27353043 2016
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.100 CausalMutation disease CLINVAR Relevance of truncating titin mutations in dilated cardiomyopathy. 26777568 2016
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