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: 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: C0002448
Disease: Ameloblastoma
Ameloblastoma
0.330 Biomarker disease CTD_human Identification of recurrent SMO and BRAF mutations in ameloblastomas. 24859340 2014
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma
0.330 Biomarker disease BEFREE Overexpression of upstream (PTCH1 and SMO) and downstream (GLI1, CCND1 and BCL2) genes in the SHH pathway leads to the constitutive activation of this pathway in KOT and AB and may suggest a mechanism for the development of these types of tumors. 24930892 2014