SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: Histiocytoid hemangioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0205788
Disease: Histiocytoid hemangioma
Histiocytoid hemangioma 		0.010 GeneticVariation disease BEFREE Deleterious variants TP53 c.707T>C (p.Tyr236Cys), FLT3 c.1995C>T (p.Met665Ile), and SMO c.1919C>T (p.Thr640Ile) were detected in EH, while AS revealed deleterious variant PTPN11 c.226G>A (p.Glu76Lys). 29206716 2018