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Gene

SMO

SMO is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (15), Actionable biomarkers (3), Trial mentions (22), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000128602 UniProt Q99835 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 15 Actionable biomarkers Actionable biomarkers 3 Trial mentions Trial mentions 22 Target-disease associations Target-disease associations 407 Vendor sourcing Vendor sourcing 62 Trial-cited literature Trial-cited literature 113 Protein variant mentions Protein variant mentions 16 Human sample screening reference Human sample screening reference 2 Assay-provider ledger Assay-provider ledger 15 Actionable biomarkers Actionable biomarkers 3 Trial mentions Trial mentions 22 Target-disease associations Target-disease associations 407 Vendor sourcing Vendor sourcing 62 Trial-cited literature Trial-cited literature 113 Protein variant mentions Protein variant mentions 16 Human sample screening reference Human sample screening reference 2

Rows recorded per section (log scale)

2 more sections with rows · 2 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention SMO. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers.

The yearly numbers
SMO per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 0 of 8,738 0.00% not measured
2025 0 of 8,875 0.00% not measured
2024 0 of 8,597 0.00% not measured
2023 0 of 8,275 0.00% 9 of 11,460 0.08%
2022 0 of 8,285 0.00% 11 of 13,598 0.08%
2021 0 of 8,692 0.00% 11 of 15,045 0.07%
2020 1 of 7,640 0.01% 6 of 14,459 0.04%
2019 2 of 7,300 0.03% 11 of 12,159 0.09%
2018 1 of 6,927 0.01% 9 of 11,854 0.08%
2017 2 of 6,558 0.03% 5 of 11,595 0.04%

Assay-provider ledger (15)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Agilent Technologies Reagent supplier Clinical validation 1 June 01, 2018
Illumina Unclassified Clinical validation 2 June 01, 2018
Promega Reagent supplier Clinical validation 1 June 01, 2018
THERMO FISHER SCIENTIFIC (Click-iT EdU kit, TaqMan Low-Density Array reagents, ExpressionSuite/DataAssist software) Reagent supplier Clinical validation 1 June 01, 2018
AB Applied Biosystems Reagent supplier Analytical validation 1 November 17, 2015

Actionable biomarkers (3)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W) Vismodegib responsive basal cell carcinoma Cancer Genome Interpreter
SMO (P641A) Vismodegib response-associated lung carcinoma Cancer Genome Interpreter
SMO (D473H) Vismodegib responsive medulloblastoma Cancer Genome Interpreter

Trial mentions (22)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT06357988 Trial eligibility (AACT)
NCT02091141 Trial eligibility (AACT)
NCT03052478 Trial eligibility (AACT)
NCT03390296 Trial eligibility (AACT)
NCT03767439 Trial eligibility (AACT)

Target-disease associations (407)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
ACTH-Producing Pituitary Gland Adenoma cancer or benign tumor Cancer Gene Census
Adenoid Cystic Breast Carcinoma cancer or benign tumor Cancer Gene Census
Alzheimer disease nervous system disease Literature (Europe PMC)
Angiomatous Meningioma cancer or benign tumor Cancer Gene Census
Arrhythmogenic right ventricular dysplasia cardiovascular disease Mouse knockout (IMPC)

Vendor sourcing (62)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The variant observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000025, PM2_M). In silico tool predictions suggest... View ClinVar record SCV002058343.1
Alliance for Clinical Trials in Oncology Trial sponsor Mentioned in trial textTrial free-text mention SMO View trial NCT02523014
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein ... View ClinVar record SCV003540327.2
Anne Chang Trial sponsor Mentioned in trial textTrial free-text mention SMO View trial NCT01529450
Astellas Pharma (Japan) Trial sponsor Named in trial exclusion criteriaTrial eligibility criteria : * Patients who underwent parathyroid intervention within 24 weeks prior to the informed consent * Patients who have primary hyperparathyroidism * Having a... View trial NCT01872026

Trial-cited literature (113)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Circulating Tumor DNA Identifies Diverse Landscape of Acquired Resistance to Anti-Epidermal Growth Factor Receptor Therapy in Metastatic Colorectal Cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2023 58
ProTarget: a Danish Nationwide Clinical Trial on Targeted Cancer Treatment based on genomic profiling - a national, phase 2, prospective, multi-drug, non-randomized, open-label basket trial. BMC cancer 2023 28
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool. Frontiers in genetics 2023 23
Characterising paediatric mortality during and after acute illness in Sub-Saharan Africa and South Asia: a secondary analysis of the CHAIN cohort using a machine learning approach. EClinicalMedicine 2023 17
Molecular targeting of the UDP-glucuronosyltransferase enzymes in high-eukaryotic translation initiation factor 4E refractory/relapsed acute myeloid leukemia patients: a randomized phase II trial of vismodegib, ribavirin with or without decitabine. Haematologica 2023 15

Protein variant mentions (16)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A001M 1 2022 PMID 34462336
p.A459V 1 2022 PMID 36455049
p.D473N 2 2016 to 2023 PMID 36814246, PMID 26546616
p.D477G 1 2019 PMID 31480477
p.F252L 1 2015 PMID 25741868

Human sample screening reference (2)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.R763* CCDI-MCI Cystic, Mucinous and Serous Neoplasms; Granular Cell Tumors and Alveolar Soft Part Sarcomas; Specialized Gonadal Neoplasms; Neoplasms, NOS; Adenomas and Adenocarcinomas; Gliomas; Meningiomas; Acinar Cell Neoplasms; Odontogenic Tumors; Soft Tissue Tumors and Sarcomas, NOS; Nevi and Melanomas; Malignant Lymphomas, NOS or Diffuse; Epithelial Neoplasms, NOS; Thymic Epithelial Neoplasms; Other and unspecified parts of mouth; Rectosigmoid junction; Thyroid gland; Connective, subcutaneous and other soft tissues; Peripheral nerves and autonomic nervous system; Other endocrine glands and related structures; Retroperitoneum and peritoneum; Vagina; Other and ill-defined digestive organs; Pancreas; Renal pelvis; Bladder; Nasal cavity and middle ear; Meninges; Adrenal gland; Bones, joints and articular cartilage of limbs; Bones, joints and articular cartilage of other and unspecified sites; Breast; Skin; Thymus; Esophagus; Other and ill-defined sites in lip, oral cavity and pharynx; Larynx; Other and unspecified urinary organs; Brain; Testis; Heart, mediastinum, and pleura; Rectum; Nasopharynx; Palate; Prostate gland; Base of tongue; Accessory sinuses; Other and unspecified female genital organs; Lip; Spinal cord, cranial nerves, and other parts of central nervous system; Colon; Oropharynx; Other and ill-defined sites; Unknown; Other and ill-defined sites within respiratory system and intrathoracic organs; Other and unspecified male genital organs; Cervix uteri; Bronchus and lung; Eye and adnexa; Ovary; Small intestine; Lymph nodes; Stomach 1 3,033 0.03% 0.01% to 0.19%
p.S533N TCGA-READ Adenomas and Adenocarcinomas; Cystic, Mucinous and Serous Neoplasms; Colon; Unknown; Rectum; Rectosigmoid junction; Connective, subcutaneous and other soft tissues 1 171 0.58% 0.10% to 3.24%

Literature-extracted relations (6)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Itraconazole Chemical negative_correlate Itraconazole, a commonly used antifungal that inhibits Hedgehog pathway activity and cancer growth. 2010
Neoplasms Disease associate Analysis of residual disease in periocular basal cell carcinoma following hedgehog pathway inhibition: Follow up to the VISORB trial. 2022
Craniosynostoses Disease associate Clinical genetics of craniosynostosis. 2017
Basal Cell Carcinoma Disease associate An Investigator-Initiated Open-Label Trial of Sonidegib in Advanced Basal Cell Carcinoma Patients Resistant to Vismodegib. 2016
Pancreatic Neoplasms Disease associate Randomized Phase Ib/II Study of Gemcitabine Plus Placebo or Vismodegib, a Hedgehog Pathway Inhibitor, in Patients With Metastatic Pancreatic Cancer. 2015

Organizations publishing (176)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
University of Michigan Academic 8 2011 to 2022
Government of the United States of America Government 7 2010 to 2022
The University of Texas System Academic 7 2015 to 2022
Duke University Health System Academic 5 2015 to 2021
Mayo Clinic Hospital 5 2012 to 2020

Where SMO appears

  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • immune system disease
  • infectious disease
  • measurement
  • medical procedure
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • phenotype
  • respiratory or thoracic disease

352 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.

Browse all biomarker evidence pages