TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Disease: Cardiomyopathy, Dilated, 1g ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753334568
rs753334568
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g 		A 0.700 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
dbSNP: rs753334568
rs753334568
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g 		A 0.700 CausalMutation CLINVAR Hereditary myopathy with early respiratory failure: occurrence in various populations. 23606733 2014
dbSNP: rs753334568
rs753334568
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g 		A 0.700 CausalMutation CLINVAR Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. 24636144 2014
dbSNP: rs753334568
rs753334568
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g 		A 0.700 CausalMutation CLINVAR Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. 23486992 2014
dbSNP: rs753334568
rs753334568
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g 		A 0.700 CausalMutation CLINVAR Next generation sequencing for molecular diagnosis of neuromuscular diseases. 22526018 2012