TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Disease: Hereditary Myopathy with Early Respiratory Failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 CausalMutation disease CLINVAR Hereditary myopathy with early respiratory failure: occurrence in various populations. 23606733 2014
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 CausalMutation disease CLINVAR Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. 23486992 2014
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 CausalMutation disease CLINVAR Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. 24231549 2014
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 CausalMutation disease CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739 2012
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		0.100 GeneticVariation disease CLINVAR