Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
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
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
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
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
Hereditary Myopathy with Early Respiratory Failure
0.100 GeneticVariation CLINVAR