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: C0334608
Disease: Angiomatous Meningioma
Angiomatous Meningioma 		0.300 Biomarker disease CTD_human Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. 23334667 2013
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 Biomarker disease BEFREE The aim of this study was to verify the expression of HH members, such as Shh, Ptc, SMO and Gli-1 in gemcitabine-resistant PDAC cell lines, and to explore a new strategy to overcome chemoresistance in PDAC. 21630164 2011
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		0.100 Biomarker phenotype HPO
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.020 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: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.020 AlteredExpression disease BEFREE Basal cell cancers (BCCs) are characterized by upregulation of Hedgehog pathway through loss of PTCH1 or activation of SMO, and SMO inhibitors, such as vismodegib, are effective therapies for advanced BCCs. 29111235 2018
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.320 CausalMutation disease CGI
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: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.320 AlteredExpression 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: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.100 CausalMutation disease CLINVAR
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		0.010 Biomarker disease BEFREE Molecular examination indicates that the PTCH and SMO genes are not involved in the pathogenesis of the patients' congenital linear unilateral basal cell nevus. 17214858 2007
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.040 Biomarker disease BEFREE SMO genes may play an important role in the sonic hedgehog (SHH) pathway and could also be responsible for generating KCOTs and NBCCS. 25189937 2014
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.040 Biomarker disease BEFREE However, compared with sporadic BCCs, BCNS-BCCs have a significantly lower mutational load, lower proportion of UV mutagenesis, increased genomic stability, and harbor fewer functionally resistant SMO mutations at baseline, explaining why BCNS-BCCs lack intrinsic resistance to SMO inhibitors. 29111235 2018
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.040 Biomarker disease BEFREE SMO functions in the hedgehog pathway, explaining phenotypic overlap between HTS, CJS and mosaic basal cell naevus syndrome. 31120550 2020
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.040 GeneticVariation disease BEFREE To clarify the role of PTCH1 and SMO in KCOTs, we undertook mutational analysis of PTCH1 and SMO in 20 sporadic and 10 NBCCS-associated KCOTs, and for SMO, 20 additional cases of KCOTs with known PTCH1 status were also included. 18502968 2008
CUI: C0281784
Disease: Benign Meningioma
Benign Meningioma 		0.300 Biomarker disease CTD_human Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. 23334667 2013
CUI: C0496899
Disease: Benign neoplasm of brain, unspecified
Benign neoplasm of brain, unspecified 		0.300 Biomarker disease CTD_human Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. 9581815 1998
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.300 Biomarker group CTD_human Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. 9581815 1998
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		0.300 Biomarker disease CTD_human Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. 9581815 1998
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE Indeed, two recent studies demonstrated that anchorage-dependent growth of some human breast cancer cell lines is impaired by cyclopamine, a potent hedgehog signaling antagonist targeting the Smoothened (SMO) protein. 18563554 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE The role of the polyamine catabolic enzymes SSAT and SMO in the synergistic effects of standard chemotherapeutic agents with a polyamine analogue in human breast cancer cell lines. 19727732 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 GeneticVariation disease BEFREE In this article, we use estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) to define breast cancer subtypes and classify any two breast cancer subtypes using SMO-MKL algorithm. 30866472 2019
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.100 Biomarker phenotype HPO
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.010 AlteredExpression disease BEFREE We show that all Burkitt lymphoma cell lines tested express GLI1, PTCH1, and SMO and that five of six Burkitt lymphomas express GLI1. 23525267 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Interestingly, genes that showed the most significant link include those that mediate various signaling pathways implicated in colorectal tumorigenesis, such as BMP3 and BMP6 (BMP signaling), EPHA3, KIT, and FLT1 (receptor tyrosine kinases) and SMO (Hedgehog signaling). 20027224 2009