SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: Medulloblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17710891
rs17710891
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0025149
Disease:
Medulloblastoma 		C 0.700 CausalMutation CLINVAR Vismodegib. 22679179 2012
dbSNP: rs17710891
rs17710891
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0025149
Disease:
Medulloblastoma 		C 0.700 CausalMutation CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0025149
Disease:
Medulloblastoma 		0.010 GeneticVariation BEFREE Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO. 31825089 2020