SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: Myofibroma (morphologic abnormality) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1266121
Disease: Myofibroma (morphologic abnormality)
Myofibroma (morphologic abnormality) 		0.010 GeneticVariation disease BEFREE A somatic mutation in SMO likely accounts for the structural malformations and predisposition to form bowel hamartomas and myofibromas. 28386950 2017