| Gene | Associated with HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| TTN | ClinVar, OMIM, HUMSAVAR | HGNC link | 2q31.2 | 8 | PS192600, PS253600, 600334, PS115200, 603689, 603829, 611705, PS160150 |