Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.800 CausalMutation CLINVAR Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 24231549

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.800 CausalMutation CLINVAR Hereditary myopathy with early respiratory failure: occurrence in various populations. 23606733

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.800 CausalMutation CLINVAR Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. 23486992

2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.800 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.800 GeneticVariation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 CausalMutation CLINVAR Hereditary myopathy with early respiratory failure: occurrence in various populations. 23606733

2014
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 CausalMutation CLINVAR Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. 23486992

2014
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 CausalMutation CLINVAR Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 24231549

2014
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 GeneticVariation CLINVAR