DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.330 GeneticVariation group BEFREE Analysis of 318 STS by CGH array evidenced a frequent deletion affecting the <i>DMD</i> gene (encoding dystrophin isoforms) in 16.5% of STS, including sarcomas with complex genomics, gastrointestinal tumors (GIST), and synovial sarcomas (SS). 31266185 2019
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.330 AlteredExpression group BEFREE Also, recent discoveries of MAX and dystrophin genomic inactivation have expanded our understanding of GIST development and progression, showing that MAX inactivation is an early event fostering cell cycle activity, whereas dystrophin inactivation promotes invasion and metastasis. 28632504 2017
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.330 AlteredExpression group BEFREE Dystrophin is expressed in the non-neoplastic and benign counterparts of GIST, RMS and LMS tumors, and DMD deletions inactivate larger dystrophin isoforms, including 427-kDa dystrophin, while preserving the expression of an essential 71-kDa isoform. 24793134 2014
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.330 Biomarker group CTD_human Dystrophin inhibits myogenic sarcoma cell migration, invasion, anchorage independence and invadopodia formation, and dystrophin inactivation was found in 96%, 100% and 62% of metastatic GIST, embryonal RMS and LMS samples, respectively. 24793134 2014