Gene: TTN ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.320 GeneticVariation disease BEFREE Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. 31660661 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.320 Biomarker disease GENOMICS_ENGLAND A 'second truncation' in TTN causes early onset recessive muscular dystrophy. 28716623 2017
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.320 GeneticVariation disease BEFREE TTN mutations should be considered in all severe congenital myopathies with arthrogryposis without cardiac involvement. 28040389 2017