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: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease BEFREE SMOH mutations were identified in four of the 42 BCCs (10%) while two tumours demonstrated mutations in SUFUH, including one missense mutation and one silent mutation. 15656799 2005
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 AlteredExpression disease BEFREE Expression of an activated SMO mutant in keratinocytes appears to be insufficient for the development and/or maintenance of full-blown BCCs. 12773389 2003
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease BEFREE 70-80% of XP skin cancers exhibit one or several mutations in the P53, PTCH-1, SMO or CDKN2A genes, the type and frequency of mutated genes being different between squamous cell (SCCs) and basal cell carcinomas (BCCs). 14521217 2003
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 Biomarker disease BEFREE Mutations in hedgehog signaling pathway genes, especially PTC1 and SMO, are pivotal to the development of basal cell carcinomas. 11348463 2001
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease BEFREE We report here the identification of activating somatic missense mutations in the SMO gene itself in sporadic BCCs from three patients. 9422511 1998
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 Biomarker disease CTD_human Two BCCs demonstrated mutations in both SMOH and PTCH. 9581815 1998
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease BEFREE Mutational analysis identified four BCCs with somatic missense mutations in SMOH affecting codon 535 (TGG==>TTG: Trp==>Leu) in three tumors and codon 199 (CGG==>TGG: Arg==>Trp) in one tumor. 9581815 1998
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease UNIPROT
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 Biomarker disease HPO
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 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 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 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 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 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 CausalMutation disease CLINVAR Vismodegib. 22679179 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 CausalMutation disease CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009
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 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 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 CausalMutation disease CGI
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.690 Biomarker disease MGD
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		0.510 AlteredExpression disease BEFREE To further elucidate the significance of alterations in the Shh signaling pathway, we investigated 31 sporadic BCCs and 15 PNETs for the mutation and/or expression of SMOH, PTCH, SHH, and GL11. 9581815 1998
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		0.510 Biomarker disease CTD_human To further elucidate the significance of alterations in the Shh signaling pathway, we investigated 31 sporadic BCCs and 15 PNETs for the mutation and/or expression of SMOH, PTCH, SHH, and GL11. 9581815 1998
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		0.510 Biomarker disease MGD