PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Malignant transformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 AlteredExpression phenotype BEFREE Since cell proliferation is increased in de- and regenerating muscle and the PAX3/FKHR fusion protein activates myogenic transcription, it is tempting to speculate whether severe muscle atrophy in SMA might predispose to malignant transformation in long-standing disease. 15639120 2005