Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
TTN
Titin




2q31
* Congenital myopathy with fatal cardiomyopathy - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
* Centronuclear myopathy related to TTN - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
* LGMDR10 (Formerly LGMD2J) - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
* Lethal Congenital Contracture Syndrome related to TTN - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
* Tibial muscular dystrophy, tardive - TMD (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
* Hereditary myopathy with early respiratory failure - HMERF (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
* Cardiomyopathy, dilated, 1G - CMD1G (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)