|
Abnormal delivery
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Acute Promyelocytic Leukemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Arsenic trioxide inhibits the Hedgehog pathway which is aberrantly activated in acute promyelocytic leukemia.
|
23867347 |
2013 |
|
Adenocarcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In adenocarcinoma, there were significant correlations of IHC expression between SHH and downstream HHSP receptor SMO (p=0.017) and transcription factor GLI1 (p=0.001), while SMO correlated with GLI1 (p=0.007).
|
22115706 |
2012 |
|
Adult Craniopharyngioma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings suggest involvement of the SHH/PTCH/SMO pathway in pathogenesis of the analyzed disorders, including its possible contribution to aberrant activation of the Wnt pathway in craniopharyngioma.
|
16596257 |
2006 |
|
Adult Diffuse Large B-Cell Lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Functional inhibition of BCL2 is needed to increase the susceptibility to apoptosis to SMO inhibitors in diffuse large B-cell lymphoma of germinal center subtype.
|
23370596 |
2013 |
|
Adult Glioblastoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
SMO and GLI3 expression were high and fully correlated in glioblastoma and medulloblastoma, although partially in neuroblastoma.
|
18288402 |
2008 |
|
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 |
|
Adult Medulloblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
Prospective studies have documented the efficacy of SMO inhibitors in a subgroup of patients with SHH medulloblastoma.
|
25398846 |
2014 |
|
Adult Medulloblastoma
|
0.090 |
AlteredExpression
|
disease |
BEFREE |
SMO and GLI3 expression were high and fully correlated in glioblastoma and medulloblastoma, although partially in neuroblastoma.
|
18288402 |
2008 |
|
Adult 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 |
|
Adult 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 |
|
Adult 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 |
|
Adult Medulloblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
The clinical efficacy of SMO inhibitors on SHH subtype of MB were measured by the objective response rate.
|
31362788 |
2019 |
|
Adult Medulloblastoma
|
0.090 |
Biomarker
|
disease |
BEFREE |
The FDA‑approved HH inhibitor, Vismodegib, which targets the transmembrane transducer SMO, has shown limited efficacy in patients with medulloblastoma, due to compensatory mechanisms that maintain an active HH‑GLI signaling status.
|
30483764 |
2019 |
|
Adult Medulloblastoma
|
0.090 |
AlteredExpression
|
disease |
BEFREE |
Hh signaling is upregulated in basal cell carcinoma and medulloblastoma and Hh pathway inhibitors targeting the Smoothened (SMO) protein are in clinical use.
|
31454140 |
2019 |
|
Adult Meningioma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Oncogenic PI3K mutations are as common as AKT1 and SMO mutations in meningioma.
|
26826201 |
2016 |
|
Adult Rhabdomyosarcoma
|
0.020 |
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 |
|
Adult Rhabdomyosarcoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Inhibition of SMO by cyclopamine slowed the growth of human rhabdomyosarcoma cell lines.
|
21674124 |
2011 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
|
Ameloblastoma
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Recently, BRAF and SMO mutations have been reported in ameloblastomas.
|
25854168 |
2015 |
|
Ameloblastoma
|
0.330 |
Biomarker
|
disease |
CTD_human |
Identification of recurrent SMO and BRAF mutations in ameloblastomas.
|
24859340 |
2014 |
|
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 |
|
Anal Stenosis, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Angioblastic Meningioma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.
|
23334667 |
2013 |