Disease: Cardiomyopathy, Dilated, 1g ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Dilated, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
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
Cardiomyopathy, Dilated, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
0.700 CausalMutation CLINVAR A rising titan: TTN review and mutation update. 24980681 2014
Cardiomyopathy, Dilated, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
0.700 CausalMutation CLINVAR A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure. 24444549 2014
Cardiomyopathy, Dilated, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
0.700 CausalMutation CLINVAR Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. 24636144 2014