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: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 GeneticVariation disease UNIPROT A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 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: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 SomaticCausalMutation disease ORPHANET A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 27236920 2016
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 GeneticVariation disease UNIPROT Identification of recurrent SMO and BRAF mutations in ameloblastomas. 24859340 2014
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		0.710 Biomarker disease CTD_human
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 CausalMutation disease CLINVAR Vismodegib. 22679179 2012
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease BEFREE Some tumors exhibiting hedgehog pathway activation such as basal cell cancer frequently harbor PATCHED-ONE (PTCH-1) or SMOOTHENED (SMO) gene mutations. 18543049 2008
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 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: 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 Somatic SMO mutations have also been found in some basal cell carcinomas. 17214858 2007
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 Biomarker disease CTD_human Eighty-five percent of the BCCs harbored mutations in Hh pathway genes (PTCH1, 73% or SMO, 20% (P = 6.6 × 10(-8)) and SUFU, 8%) and in TP53 (61%). 26950094 2016
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 CausalMutation disease CLINVAR Smoothened variants explain the majority of drug resistance in basal cell carcinoma. 25759020 2015
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 CausalMutation disease CLINVAR Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. 19726788 2009
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease BEFREE Mutations that occur in BCC in hedgehog (Hh) pathway genes primarily involve the genes encoding patched homolog (PTCH) and smoothened homolog (SMO). 25766766 2015
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease BEFREE The constitutive activation of the sonic hedgehog signaling pathway by acquired mutations in the PTCH and SMO genes appears to represent the early basal cell carcinoma developmental determinant. 25207369 2014
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 Other genotypes, such as the TT in SHH rs104894049 331 A/T and the GG in SMO rs41303402 rs41303402" genes_norm="5727;6608">385 G/A also statistically raised the risk of BCC, but these associations were weaker. 26590974 2016
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 GeneticVariation disease BEFREE Smoothened (SMO) receptor mutations dictate resistance to vismodegib in basal cell carcinoma. 25306392 2015
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 Biomarker disease BEFREE Interestingly, BCNS-BCCs are more responsive to SMO inhibitors than sporadic BCCs, with minimal development of resistance. 29111235 2018
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