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: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 GeneticVariation disease BEFREE In mice, an mTORC1 inhibitor suppressed medulloblastoma driven by a mutant SMO that is inherently resistant to existing SMO inhibitors, prolonging the survival of the mice. 29103956 2017
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 GeneticVariation disease BEFREE It now appears that constitutive activation of Hedgehog signalling, by inactivating mutations in PTCH1 or activating mutations in the coreceptor SMOH, is required and possibly sufficient for basal cell carcinoma development and also contributes to the formation of a variety of other tumour types, including medulloblastoma and rhabdomyosarcoma. 11130178 2000
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 GeneticVariation disease BEFREE Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO. 31825089 2020
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 GeneticVariation disease BEFREE Mutations in the SMO gene have been identified in basal cell carcinoma and in medulloblastoma, both of which are features of NBCCS. 18502968 2008
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 Biomarker disease BEFREE The FDA‑approved HH inhibitor, Vismodegib, which targets the transmembrane transducer SMO, has shown limited efficacy in patients with medulloblastoma, due to compensatory mechanisms that maintain an active HH‑GLI signaling status. 30483764 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 Biomarker disease MGD
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 Biomarker disease BEFREE Prospective studies have documented the efficacy of SMO inhibitors in a subgroup of patients with SHH medulloblastoma. 25398846 2014
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 Biomarker disease BEFREE The clinical efficacy of SMO inhibitors on SHH subtype of MB were measured by the objective response rate. 31362788 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 AlteredExpression disease BEFREE SMO and GLI3 expression were high and fully correlated in glioblastoma and medulloblastoma, although partially in neuroblastoma. 18288402 2008
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 AlteredExpression disease BEFREE Hh signaling is upregulated in basal cell carcinoma and medulloblastoma and Hh pathway inhibitors targeting the Smoothened (SMO) protein are in clinical use. 31454140 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 CausalMutation disease CLINVAR Vismodegib. 22679179 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 CausalMutation disease CGI
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.690 CausalMutation disease CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009