SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: CULLER-JONES SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		0.010 GeneticVariation BEFREE A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. 28386950 2017