Disease Term Disease ID Gene Symbol Classification References Source
Early-onset myopathy with fatal cardiomyopathy 289377 TTN Causal Pathogenic evidence from ClinVar - ClinVar
Myopathy, Early-Onset, with Fatal Cardiomyopathy C2673677 TTN Causal Pathogenic evidence from ClinVar 17444505, 20186049, 22335739, 27869827, 28295036, 29691892 ClinVar
TTN-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22335739 -