SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: Carcinoma, Basal Cell ×
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: C4721806
Disease:
Carcinoma, Basal Cell 		C 0.700 CausalMutation CLINVAR Smoothened variants explain the majority of drug resistance in basal cell carcinoma. 25759020 2015
dbSNP: rs17710891
rs17710891
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		C 0.700 CausalMutation CLINVAR Vismodegib. 22679179 2012
dbSNP: rs17710891
rs17710891
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		C 0.700 CausalMutation CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009
dbSNP: rs121918347
rs121918347
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.700 GeneticVariation UNIPROT
dbSNP: rs121918348
rs121918348
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.700 GeneticVariation UNIPROT
dbSNP: rs879255280
rs879255280
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		T 0.700 CausalMutation CLINVAR
dbSNP: rs41303402
rs41303402
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.010 GeneticVariation BEFREE Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 385 G/A also statistically raised the risk of BCC, but these associations were weaker. 26590974 2016
dbSNP: rs41303402
rs41303402
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.010 GeneticVariation BEFREE Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 385 G/A also statistically raised the risk of BCC, but these associations were weaker. 26590974 2016
dbSNP: rs912880810
rs912880810
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C4721806
Disease:
Carcinoma, Basal Cell 		0.010 GeneticVariation BEFREE These results mainly underline the potential role of SHH3 rs104894040 349 T/C gene polymorphism in the development of skin basal cell carcinomas in patients of Polish origin. 26590974 2016