SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 Biomarker disease BEFREE In addition to mutations in POLR2A, NF2, SMARCB1, TRAF7, KLF4, AKT1, PIK3CA, and SMO, we also report somatic mutations in AKT3, PIK3R1, PRKAR1A, and SUFU in meningiomas. 27548314 2016
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 GeneticVariation disease 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
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 Biomarker disease BEFREE Genotyping of SMO and AKT1 is likely to be high yield in anterior skull base meningiomas with available surgical tissue. 27885953 2017
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 Biomarker disease BEFREE Importantly, the discovery of clinically actionable alterations in a number of genes, including SMO, AKT1 and PIK3CA, has opened up novel potential avenues for therapeutic management of meningiomas. 30379704 2018
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 GeneticVariation disease BEFREE Meningiomas in the SMO-mutant group had an overall 36% recurrence rate, significantly higher than in the AKT1-mutant group (16%) and in the "SMO and AKT1 wildtype" group (11%) (χ2 test, P = .04). 28082415 2017
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 GeneticVariation disease BEFREE Similar to prior reports, we identified AKT1 and SMO mutations in a subset of non-NF2-mutant meningiomas (ie, ∼9% and ∼6%, respectively). 26826201 2016
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 GeneticVariation disease BEFREE SMO mutations, which activate Hedgehog signaling, were identified in ~5% of non-NF2 mutant meningiomas. 23348505 2013
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 Biomarker disease BEFREE As most meningiomas in this location are indolent SMO subtype lesions, our report suggests that even though rare, aggressive NF2 subtype meningiomas can also occur along the midline anterior skull base. 29045680 2017
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 AlteredExpression disease BEFREE Genetic aberrations (TRAF7, KLF4, AKT1, and SMO) and the effects of genetic aberrations on the expression of inhibitory immune checkpoint molecules (PD-L1, IDO, and TDO2) in skull base meningiomas are still unclear. 31177425 2019
CUI: C0025286
Disease: Meningioma
Meningioma
0.390 Biomarker disease CTD_human 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