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: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.010 GeneticVariation disease LHGDN Significantly high levels of ultraviolet-specific mutations in the smoothened gene in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients. 12499255 2002
CUI: C0457190
Disease: Xanthomatous Meningioma
Xanthomatous Meningioma 		0.300 Biomarker disease CTD_human Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. 23334667 2013
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: C0270824
Disease: Visual seizure
Visual seizure 		0.200 Biomarker disease RGD Recruitment of the Sonic hedgehog signalling cascade in electroconvulsive seizure-mediated regulation of adult rat hippocampal neurogenesis. 16197497 2005
CUI: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma 		0.010 GeneticVariation disease BEFREE Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM. 30216733 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 AlteredExpression disease BEFREE SMO expression is upregulated in UC tissues, deriving from increased levels in mononuclear inflammatory cells. 20127992 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE Overexpression or knockdown of GLI1/SMO increased or repressed the in vitro migration and invasion activity in OECM-1/FaDu cells, respectively. 31408253 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE Moreover, the SMO inhibitor or GLI1 siRNA also reversed the hypoxia-driven EMT and invasion of HCC cells under hypoxia condition. 29237157 2017
CUI: C0334611
Disease: Transitional Meningioma
Transitional Meningioma 		0.310 Biomarker disease BEFREE Clinicopathologically, tumors with mutations in TRAF7/AKT1 and SMO shared specific features: they were located in the anterior fossa, median middle fossa, or anterior calvarium, and most of them were meningothelial or transitional meningiomas. 27624470 2016
CUI: C0334611
Disease: Transitional Meningioma
Transitional Meningioma 		0.310 Biomarker disease CTD_human Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. 23334667 2013
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.100 Biomarker disease HPO
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female 		0.300 Biomarker disease CTD_human Conditional loss of hepatocellular Hedgehog signaling in female mice leads to the persistence of hepatic steroidogenesis, androgenization and infertility. 28560483 2017
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		0.100 Biomarker phenotype HPO
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.010 GeneticVariation group BEFREE In summary, SMO and/or PTCH1 mutations are present at low frequency in different histologic subtypes of gastric tumors and these do not appear to be driver mutations. 23349881 2013
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE These results identify a pathway for oxidative stress-induced epithelial cell apoptosis and DNA damage due to SMO(PAOh1) activation by H. pylori that may contribute to the pathogenesis of the infection and development of gastric cancer. 15574757 2004