Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.360 GeneticVariation disease BEFREE In this review article, we highlight the role of titin and impact of TTN mutations in the pathogenesis of muscular dystrophies and cardiomyopathies. 30959043 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.360 Biomarker disease BEFREE Urinary N-terminal fragment of titin is a marker to diagnose muscular dystrophy in patients with cardiomyopathy. 29870683 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.360 GeneticVariation disease BEFREE A 'second truncation' in TTN causes early onset recessive muscular dystrophy. 28716623 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.360 Biomarker disease BEFREE Titin is the first urinary biomarker that offers the possibility to develop a simple, non-invasive and easy-to-use test for pre-screening of muscular dystrophies, and may also prove to be useful for the non-invasive follow up of DMD patients under treatment. 24813925 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.360 Biomarker disease MGD Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. 20855473 2010
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.360 Biomarker disease BEFREE Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. 11294923 2001
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.360 GeneticVariation disease BEFREE Expression of myosin isoforms and of desmin, vimentin and titin in Tunisian Duchenne-like autosomal recessive muscular dystrophy. 8064303 1994
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.360 GeneticVariation disease CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.360 Biomarker disease HPO