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 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 GeneticVariation disease UNIPROT Identification of recurrent SMO and BRAF mutations in ameloblastomas. 24859340 2014
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 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 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 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 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 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 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 GeneticVariation disease UNIPROT
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 GeneticVariation disease 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: 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: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.410 GeneticVariation disease BEFREE Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10<sup>-12</sup>, p.Arg173Cys) and IL11 (rs4252548, frequency 2.08%, OR = 1.30, P = 2.1 × 10<sup>-11</sup>, rs4252548" genes_norm="3589">p.Arg112His). 30374069 2018
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.410 GeneticVariation disease GWASCAT Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10<sup>-12</sup>, p.Arg173Cys) and IL11 (rs4252548, frequency 2.08%, OR = 1.30, P = 2.1 × 10<sup>-11</sup>, p.Arg112His). 30374069 2018
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 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