| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | Biomarker | group | GENOMICS_ENGLAND | Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. | 28716623 | 2017 | ||||
|
0.570 | GeneticVariation | group | BEFREE | Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. | 28716623 | 2017 | ||||
|
0.570 | GeneticVariation | group | BEFREE | In this study, we describe a distinct phenotype for patients with distal myopathy associated with novel recessive TTN variants including a Serbian founder variant. | 28295036 | 2017 | ||||
|
0.570 | GeneticVariation | group | LHGDN | Samples from 25 new families and 25 sporadic new distal myopathy cases were screened for titin mutations. | 18948003 | 2008 | ||||
|
0.570 | GeneticVariation | group | BEFREE | Of these, only titin mutations were previously known to cause dominant late-onset distal myopathy. | 17337483 | 2007 | ||||
|
0.570 | GeneticVariation | group | BEFREE | Mutations in titin are well known cause of late onset autosomal dominant distal myopathy. | 16793270 | 2006 | ||||
|
0.570 | GeneticVariation | group | BEFREE | Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. | 15728284 | 2005 | ||||
|
0.570 | GeneticVariation | group | LHGDN | Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. | 12145747 | 2002 | ||||
|
0.570 | Biomarker | group | CTD_human | Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. | 12145747 | 2002 |