SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: C3811653
Disease:
Experimental Organism Basal Cell Carcinoma
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
dbSNP: rs912880810
rs912880810
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C3811653
Disease:
Experimental Organism Basal Cell Carcinoma
0.010 GeneticVariation BEFREE The presence of CC genotype in the SHH rs104894040 349 T/C polymorphism was linked to the highest risk of BCC development (OR 87.9, p < 0.001). 26590974 2016
dbSNP: rs3824
rs3824
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE In multivariate logistic regression analysis, TNM stage (p = 0.001), recipient SMO rs3824 genotype (CG vs. CC/GG p = 0.001), and histologic grade (p = 0.019) were identified as independent risk factors of HCC recurrence. 25944162 2015
dbSNP: rs121918347
rs121918347
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0025286
Disease:
Meningioma
0.010 GeneticVariation BEFREE A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways. 23334667 2013