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: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		0.100 GeneticVariation disease CLINVAR
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		0.100 CausalMutation disease CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 CausalMutation phenotype CLINVAR
CUI: C0702166
Disease: Acne
Acne 		0.100 GeneticVariation disease CLINVAR
CUI: C0702166
Disease: Acne
Acne 		0.100 CausalMutation disease CLINVAR
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.100 CausalMutation phenotype CLINVAR
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter 		0.100 CausalMutation phenotype CLINVAR
CUI: C4023223
Disease: Atrial reentry tachycardia
Atrial reentry tachycardia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4023223
Disease: Atrial reentry tachycardia
Atrial reentry tachycardia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 GeneticVariation group CLINVAR
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 CausalMutation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 GeneticVariation group CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation group CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation group CLINVAR The kinase domain of titin controls muscle gene expression and protein turnover. 15802564 2005
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation group CLINVAR Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. 25448463 2014
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation group CLINVAR Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747 2002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation group CLINVAR Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. 16733766 2006
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation group CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739 2012
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation group CLINVAR C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 17444505 2007
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation group CLINVAR Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. 23418287 2013