SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: Hamartoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.110 GeneticVariation disease BEFREE Molecular analysis demonstrated the SMO c.1234 C>T mutation in varying amounts in affected skin (up to 35%) and intestinal hamartoma (26%). 28386950 2017
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.110 CausalMutation disease CLINVAR