Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.120 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013