MYOD1, myogenic differentiation 1, 4654

N. diseases: 106; N. variants: 2
Disease: Spindle cell rhabdomyosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1266134
Disease: Spindle cell rhabdomyosarcoma
Spindle cell rhabdomyosarcoma 		0.030 GeneticVariation disease BEFREE Spindle cell rhabdomyosarcoma (RMS) is an aggressive sarcoma type with a predilection for the head and neck and frequent transactivating MYOD1 mutations. 31107719 2019
CUI: C1266134
Disease: Spindle cell rhabdomyosarcoma
Spindle cell rhabdomyosarcoma 		0.030 GeneticVariation disease BEFREE Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. 24272621 2014
CUI: C1266134
Disease: Spindle cell rhabdomyosarcoma
Spindle cell rhabdomyosarcoma 		0.030 GeneticVariation disease BEFREE All four pediatric MYOD1-mutated RMS patients died of the disease at 12-35 months following diagnosis. 24824843 2014