TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504452
rs727504452
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739 2012
dbSNP: rs727504452
rs727504452
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003 2008
dbSNP: rs727504452
rs727504452
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 17444505 2007
dbSNP: rs727504452
rs727504452
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR The kinase domain of titin controls muscle gene expression and protein turnover. 15802564 2005
dbSNP: rs727504452
rs727504452
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747 2002