SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: Childhood Rhabdomyosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		0.020 Biomarker disease BEFREE Inhibition of SMO by cyclopamine slowed the growth of human rhabdomyosarcoma cell lines. 21674124 2011
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		0.020 GeneticVariation disease BEFREE It now appears that constitutive activation of Hedgehog signalling, by inactivating mutations in PTCH1 or activating mutations in the coreceptor SMOH, is required and possibly sufficient for basal cell carcinoma development and also contributes to the formation of a variety of other tumour types, including medulloblastoma and rhabdomyosarcoma. 11130178 2000