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 GeneticVariation disease BEFREE SMO mutations, which activate Hedgehog signaling, were identified in ~5% of non-NF2 mutant meningiomas. 23348505 2013
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma 		0.330 GeneticVariation disease BEFREE Most ameloblastomas (AM) in humans harbour mutually-exclusive driving mutations in BRAF, HRAS, KRAS, NRAS or FGFR2 that activate MAPK signalling, and in SMO that activates Hedgehog signalling. 31041834 2019
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma 		0.330 GeneticVariation disease BEFREE Recently, BRAF and SMO mutations have been reported in ameloblastomas. 25854168 2015
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.320 GeneticVariation disease LHGDN PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. 18502968 2008
CUI: C1335107
Disease: Olfactory Groove Meningioma
Olfactory Groove Meningioma 		0.310 GeneticVariation disease BEFREE We used the Sanger sequencing technique to characterize 79 samples of olfactory groove meningiomas for SMO (L412F and W535L) and AKT1E17K mutations. 28082415 2017
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.110 GeneticVariation disease BEFREE Molecular analysis demonstrated the SMO c.1234 C>T mutation in varying amounts in affected skin (up to 35%) and intestinal hamartoma (26%). 28386950 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group 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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group 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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE No mutations were found in either SHH or SMO in any tumor. 10564585 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group 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: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Meningiomas with an SMO mutation presented with significantly larger tumor volume (70.6 ± 36.3 cm<sup>3</sup>) compared with AKT1-mutated (18.2 ± 26.8 cm<sup>3</sup>) and wild-type (22.7 ± 23.9 cm<sup>3</sup>) meningiomas, respectively. 27885953 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE A 3-bp insertion (69_70insCTG) in SMO, predicting an additional leucine residue in the signal peptide segment of SMO protein was also identified in LO68 cells and a MMe tumour. 23826113 2013
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.100 GeneticVariation phenotype BEFREE Smoothened (SMO) receptor mutations dictate resistance to vismodegib in basal cell carcinoma. 25306392 2015
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.100 GeneticVariation phenotype 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: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.100 GeneticVariation phenotype 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: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.100 GeneticVariation phenotype 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: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.100 GeneticVariation phenotype 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: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.100 GeneticVariation phenotype 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: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.100 GeneticVariation phenotype 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: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.100 GeneticVariation phenotype BEFREE In addition to those that are potential germline polymorphisms, we found three SMO missense mutations, and one PTCH1 frameshift mutation that are novel and have not been documented in basal cell carcinoma. 23349881 2013
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.090 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: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.090 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: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.090 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: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.090 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: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.090 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