Brain neoplasm
diseaseOn this page
Also known as brain neoplasm (disease)brain neoplasmsbrain tumorbrain tumourneoplasm of brainneoplasm of the braintumor of braintumor of the Braintumour of braintumour of the Brain
Summary
Brain neoplasm (MONDO:0021211) is a cancer (an umbrella term covering 17 Mondo subtypes) with 4 cohort genes (2 GWAS associations across 16 studies; 3 CIViC-evidence somatic drivers; 4 ClinVar predisposition records) and 649 clinical trials. Top therapeutic interventions include aminolevulinic acid, lomustine, and 2-mercaptoethanesulfonic acid.
At a glance
- Classification: Cancer
- Umbrella term: 17 Mondo subtypes
- Cohort genes: 4
- GWAS associations: 2
- ClinVar variants: 4
- Clinical trials: 649
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | brain neoplasm |
| Mondo ID | MONDO:0021211 |
| EFO | EFO:0003833 |
| NCIT | C2907 |
| UMLS | C0006118 |
| MedGen | 14216 |
| Anatomy (UBERON) | UBERON:0000955 |
| Is cancer (heuristic) | yes |
Also known as: brain neoplasm (disease) · brain neoplasms · brain tumor · brain tumour · neoplasm of brain · neoplasm of the brain · tumor of brain · tumor of the Brain · tumour of brain · tumour of the Brain
Data availability: 4 ClinVar variants · 2 GWAS associations (16 studies) · 1 cell line.
Disease family
An umbrella term covering 17 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › brain neoplasm
Related subtypes (70): leukoencephalopathy, megalencephalic, encephalopathy, acute, infection-induced, diabetic encephalopathy, complex cortical dysplasia with other brain malformations, hydrocephalus, brain compression, cerebral sarcoidosis, hepatic encephalopathy, visual pathway disorder, central nervous system origin vertigo, cerebellar disorder, cerebritis, olfactory nerve disorder, thalamic disorder, pituitary gland disorder, disorder of optic chiasm, basal ganglia disorder, epilepsy, mental disorder, central nervous system cyst, migraine disorder, multiple sclerosis, prion disease, carbon monoxide-induced delayed encephalopathy, cerebral malaria, akinetic mutism, bulbar polio, Reye syndrome, brain edema, encephalomalacia, intracranial hypertension, intracranial hypotension, Wernicke encephalopathy, encephalopathy, recurrent, of childhood, XK aprosencephaly, progressive bulbar palsy, cerebrovascular disorder, glycine encephalopathy, autosomal recessive frontotemporal pachygyria, occipital pachygyria and polymicrogyria, insomnia, narcolepsy-cataplexy syndrome, megalencephaly, meningoencephalocele, cerebral cortical dysplasia, encephaloclastic disorder, bilirubin encephalopathy, autoimmune encephalopathy with parasomnia and obstructive sleep apnea, narcolepsy without cataplexy, hypothalamic hamartomas with gelastic seizures, encephalitis, cerebral lipidosis with dementia, colpocephaly, corpus callosum agenesis of blepharophimosis robin type, corpus callosum dysgenesis X-linked recessive, corpus callosum dysgenesis cleft spasm, corpus callosum dysgenesis hypopituitarism, cerebral degeneration, acute bilirubin encephalopathy, chronic bilirubin encephalopathy, atelencephaly, aprosencephaly, brain injury, traumatic encephalopathy, cluster headache syndrome, cerebral cortex disorder, midbrain disorder, encephalopathy due to mitochondrial and peroxisomal fission defect, brain malformations with or without urinary tract defects, encephalopathy, acute transient
Subtypes (17): brain cancer, cerebellopontine angle tumor, olfactory nerve neoplasm, cerebellar neoplasm, childhood brain meningioma, olfactory groove meningioma, dysembryoplastic neuroepithelial tumor, hypothalamic neoplasm, optic pathway glioma, choroid plexus neoplasm, brainstem neoplasm, pineal body neoplasm, neoplasm of cerebral hemisphere, benign neoplasm of brain, primary brain neoplasm, optic tract meningioma, infratentorial neoplasm
Genetics & variants
GWAS landscape
2 GWAS associations across 16 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs11278847 | 4e-12 | TERT | G | 0.3 |
| rs10712703 | 2e-08 | CDKN2B-AS1 | T | 0.33 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90018800 | Sakaue S | 2021 | 833 | 490,709 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90079614 | Backman JD | 2021 | 678 | 387,224 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083600 | Backman JD | 2021 | 678 | 387,224 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90079613 | Backman JD | 2021 | 550 | 387,380 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083599 | Backman JD | 2021 | 550 | 387,380 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90079117 | Backman JD | 2021 | 549 | 73,681 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083103 | Backman JD | 2021 | 549 | 73,681 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90041861 | Jiang L | 2021 | 497 | 455,851 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90018580 | Sakaue S | 2021 | 405 | 178,321 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90041899 | Jiang L | 2021 | 206 | 456,070 | A generalized linear mixed model association tool for biobank-scale data. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs11278847 | 5 | 1280826 | GAGCCCACC>G,GAGCCCACCAGCCCACC | 0.05 | intron_variant | TERT | 4e-12 | Tier 4: intronic/intergenic |
| rs10712703 | 9 | 22053958 | TAA>T,TA,TAAA | 0.05 | intron_variant | CDKN2B-AS1 | 2e-08 | Tier 4: intronic/intergenic |
ClinVar germline variants
4 retrieved; paginated sample, class counts are floors:
1 conflicting classifications of pathogenicity, 1 pathogenic/likely pathogenic, 1 benign, 1 risk factor
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 2098090 | NM_001042492.3(NF1):c.8161-2A>G | NF1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 984953 | NM_032489.3(ACRBP):c.1040dup (p.Tyr348fs) | ACRBP | risk factor | no assertion criteria provided |
| 141401 | NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) | SDHA | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 49957 | NM_000548.5(TSC2):c.482-3C>T | TSC2 | Benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 21 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| SDHA | Act | CHRCC,HCC,LGGNOS | CIViC #5176 |
| TSC2 | LoF | ANGS,BLCA,CHOL,CHRCC,ESCA,HCC,PANCREAS,PANET,SCLC,STAD | CIViC #47 |
| NF1 | LoF | ACC,ALL,AML,ANGS,BLCA,BRCA,CCRCC,CHOL,CLLSLL,COADREAD,GB,GBM,GIST,HCC,HNSC,LGGNOS,LMS,LUAD,LUNG,LUSC,MEL,NBL,NSCLC,OVT,PAST,PGNG,PLMESO,RMS,SKCM,SOFT_TISSUE,STAD,THYM,UCS | CIViC #3867 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SDHA | Orphanet:139411 | Carney triad |
| SDHA | Orphanet:154 | Familial isolated dilated cardiomyopathy |
| SDHA | Orphanet:29072 | Hereditary pheochromocytoma-paraganglioma |
| SDHA | Orphanet:3208 | Isolated succinate-CoQ reductase deficiency |
| SDHA | Orphanet:44890 | Gastrointestinal stromal tumor |
| SDHA | Orphanet:97286 | Carney-Stratakis syndrome |
| TSC2 | Orphanet:210159 | Adult hepatocellular carcinoma |
| TSC2 | Orphanet:269001 | Isolated focal cortical dysplasia type IIa |
| TSC2 | Orphanet:269008 | Isolated focal cortical dysplasia type IIb |
| TSC2 | Orphanet:538 | Lymphangioleiomyomatosis |
| TSC2 | Orphanet:805 | Tuberous sclerosis complex |
| TSC2 | Orphanet:88924 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
| NF1 | Orphanet:139474 | 17q11.2 microduplication syndrome |
| NF1 | Orphanet:29072 | Hereditary pheochromocytoma-paraganglioma |
| NF1 | Orphanet:293199 | Pleomorphic rhabdomyosarcoma |
| NF1 | Orphanet:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion |
| NF1 | Orphanet:638 | Neurofibromatosis-Noonan syndrome |
| NF1 | Orphanet:86834 | Juvenile myelomonocytic leukemia |
| NF1 | Orphanet:97685 | 17q11 microdeletion syndrome |
| NF1 | Orphanet:99756 | Alveolar rhabdomyosarcoma |
| NF1 | Orphanet:99757 | Embryonal rhabdomyosarcoma |
Cohort genes → proteins
4 cohort genes, 4 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 4 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| SDHA | HGNC:10680 | ENSG00000073578 | P31040 | Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial | clinvar |
| TSC2 | HGNC:12363 | ENSG00000103197 | P49815 | Tuberin | clinvar |
| ACRBP | HGNC:17195 | ENSG00000111644 | Q8NEB7 | Acrosin-binding protein | clinvar |
| NF1 | HGNC:7765 | ENSG00000196712 | P21359 | Neurofibromin | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SDHA | Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial | Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). |
| TSC2 | Tuberin | Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule… |
| ACRBP | Acrosin-binding protein | Acrosomal protein that maintains proacrosin (pro-ACR) as an enzymatically inactive zymogen in the acrosome. |
| NF1 | Neurofibromin | Stimulates the GTPase activity of Ras. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 4 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Other/Unknown | 4 | 1.8× | 0.097 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SDHA | Other/Unknown | no | FRD_SDH_FAD_BS, FAD-dep_OxRdtase_2_FAD-bd, Succ_DH_flav_su_fwd | |
| TSC2 | Other/Unknown | no | Rap/Ran_GAP_dom, Tuberin, ARM-like | |
| ACRBP | Other/Unknown | no | Proacrosin-bd, Kazal_dom_sf | |
| NF1 | Other/Unknown | no | CRAL-TRIO_dom, RasGAP_dom, Rho_GTPase_activation_prot |
Expression context
Cohort genes with no expression data: 0.
4 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 4 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| apex of heart | 1 |
| heart left ventricle | 1 |
| mucosa of transverse colon | 1 |
| cerebellar cortex | 1 |
| cerebellar hemisphere | 1 |
| right hemisphere of cerebellum | 1 |
| left testis | 1 |
| monocyte | 1 |
| right testis | 1 |
| adrenal tissue | 1 |
| calcaneal tendon | 1 |
| colonic epithelium | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SDHA | 143 | ubiquitous | marker | apex of heart, heart left ventricle, mucosa of transverse colon |
| TSC2 | 282 | ubiquitous | marker | right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex |
| ACRBP | 177 | broad | marker | left testis, right testis, monocyte |
| NF1 | 283 | ubiquitous | marker | colonic epithelium, calcaneal tendon, adrenal tissue |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| SDHA | 6,141 |
| NF1 | 5,540 |
| TSC2 | 4,135 |
| ACRBP | 1,029 |
Structural data
PDB: 3 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| NF1 | P21359 | 26 |
| SDHA | P31040 | 5 |
| TSC2 | P49815 | 2 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| ACRBP | Q8NEB7 | 64.09 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 21. Enrichment computed across 4 evidence-associated genes (3 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Inhibition of TSC complex formation by AKT (PKB) | 1 | 761.3× | 0.019 | TSC2 |
| RAS signaling downstream of NF1 loss-of-function variants | 1 | 543.8× | 0.019 | NF1 |
| AKT phosphorylates targets in the cytosol | 1 | 271.9× | 0.023 | TSC2 |
| Maturation of TCA enzymes and regulation of TCA cycle | 1 | 190.3× | 0.023 | SDHA |
| Constitutive Signaling by AKT1 E17K in Cancer | 1 | 141.0× | 0.023 | TSC2 |
| Citric acid cycle (TCA cycle) | 1 | 141.0× | 0.023 | SDHA |
| Energy dependent regulation of mTOR by LKB1-AMPK | 1 | 131.3× | 0.023 | TSC2 |
| TBC/RABGAPs | 1 | 86.5× | 0.028 | TSC2 |
| Oncogenic MAPK signaling | 1 | 82.8× | 0.028 | NF1 |
| Regulation of RAS by GAPs | 1 | 64.5× | 0.032 | NF1 |
| MAPK1/MAPK3 signaling | 1 | 43.8× | 0.040 | NF1 |
| TP53 Regulates Metabolic Genes | 1 | 43.3× | 0.040 | TSC2 |
| Macroautophagy | 1 | 38.5× | 0.042 | TSC2 |
| MAPK family signaling cascades | 1 | 34.3× | 0.043 | NF1 |
| Respiratory electron transport | 1 | 31.7× | 0.044 | SDHA |
| Aerobic respiration and respiratory electron transport | 1 | 29.5× | 0.044 | SDHA |
| RAF/MAP kinase cascade | 1 | 20.4× | 0.060 | NF1 |
| Diseases of signal transduction by growth factor receptors and second messengers | 1 | 18.9× | 0.061 | NF1 |
| Disease | 1 | 4.4× | 0.235 | NF1 |
| Metabolism | 1 | 3.9× | 0.248 | SDHA |
| Signal Transduction | 1 | 3.4× | 0.267 | NF1 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| positive regulation of mast cell apoptotic process | 1 | 4213.0× | 0.007 | NF1 |
| regulation of glial cell differentiation | 1 | 4213.0× | 0.007 | NF1 |
| observational learning | 1 | 4213.0× | 0.007 | NF1 |
| gamma-aminobutyric acid secretion, neurotransmission | 1 | 2106.5× | 0.007 | NF1 |
| Schwann cell proliferation | 1 | 1404.3× | 0.007 | NF1 |
| forebrain astrocyte development | 1 | 1404.3× | 0.007 | NF1 |
| Schwann cell migration | 1 | 1404.3× | 0.007 | NF1 |
| glutamate secretion, neurotransmission | 1 | 1404.3× | 0.007 | NF1 |
| negative regulation of mast cell proliferation | 1 | 1404.3× | 0.007 | NF1 |
| negative regulation of Schwann cell migration | 1 | 1404.3× | 0.007 | NF1 |
| vascular associated smooth muscle cell migration | 1 | 1404.3× | 0.007 | NF1 |
| mast cell apoptotic process | 1 | 1053.2× | 0.007 | NF1 |
| negative regulation of Rac protein signal transduction | 1 | 1053.2× | 0.007 | NF1 |
| myeloid leukocyte migration | 1 | 1053.2× | 0.007 | NF1 |
| protein import into nucleus | 2 | 72.0× | 0.007 | TSC2, NF1 |
| heart development | 2 | 39.4× | 0.007 | TSC2, NF1 |
| succinate metabolic process | 1 | 842.6× | 0.008 | SDHA |
| mitochondrial electron transport, succinate to ubiquinone | 1 | 842.6× | 0.008 | SDHA |
| mast cell proliferation | 1 | 842.6× | 0.008 | NF1 |
| amygdala development | 1 | 702.2× | 0.008 | NF1 |
| regulation of blood vessel endothelial cell migration | 1 | 702.2× | 0.008 | NF1 |
| vascular associated smooth muscle cell proliferation | 1 | 702.2× | 0.008 | NF1 |
| negative regulation of Schwann cell proliferation | 1 | 601.9× | 0.009 | NF1 |
| negative regulation of neurotransmitter secretion | 1 | 601.9× | 0.009 | NF1 |
| hair follicle maturation | 1 | 526.6× | 0.009 | NF1 |
| negative regulation of leukocyte migration | 1 | 421.3× | 0.010 | NF1 |
| regulation of insulin receptor signaling pathway | 1 | 421.3× | 0.010 | TSC2 |
| negative regulation of vascular associated smooth muscle cell migration | 1 | 421.3× | 0.010 | NF1 |
| regulation of bone resorption | 1 | 383.0× | 0.010 | NF1 |
| negative regulation of astrocyte differentiation | 1 | 383.0× | 0.010 | NF1 |
Therapeutics
Drugs indicated for this disease
3 approved, 22 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Lomustine | Approved (phase 4) |
| Methylprednisolone Acetate | Approved (phase 4) |
| Prednisone | Approved (phase 4) |
| Bevacizumab | Phase 3 (in late-stage trials) |
| Carboplatin | Phase 3 (in late-stage trials) |
| Cisplatin | Phase 3 (in late-stage trials) |
| Doxorubicin | Phase 3 (in late-stage trials) |
| Etoposide | Phase 3 (in late-stage trials) |
| Filgrastim | Phase 3 (in late-stage trials) |
| Gadopiclenol | Phase 3 (in late-stage trials) |
| Gadoterate Meglumine | Phase 3 (in late-stage trials) |
| Irinotecan | Phase 3 (in late-stage trials) |
| Isotretinoin | Phase 3 (in late-stage trials) |
| Metformin | Phase 3 (in late-stage trials) |
| Methotrexate | Phase 3 (in late-stage trials) |
| Methylphenidate | Phase 3 (in late-stage trials) |
| Modafinil | Phase 3 (in late-stage trials) |
| Motexafin Gadolinium | Phase 3 (in late-stage trials) |
| Nivolumab | Phase 3 (in late-stage trials) |
| Pembrolizumab | Phase 3 (in late-stage trials) |
| Temozolomide | Phase 3 (in late-stage trials) |
| Thioguanine | Phase 3 (in late-stage trials) |
| Thiotepa | Phase 3 (in late-stage trials) |
| Tranexamic Acid | Phase 3 (in late-stage trials) |
| Vincristine | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): ANG1005, ANTINEOPLASTON A10, Abemaciclib, Aflibercept, Alectinib, Aminolevulinic Acid, Capecitabine, Carmustine, Cilengitide, Dacomitinib Anhydrous, Dasatinib Anhydrous, Dexmedetomidine, Dovitinib, Everolimus, Fenretinide, Karenitecin, Lacosamide, Levetiracetam, Melphalan, Paclitaxel Poliglumex, Phenylbutanoic Acid, Porfimer Sodium, Potassium Chloride, Remifentanil, Sargramostim, Sodium Acetate, Sodium Chloride, Sodium Gluconate, Streptozocin, Sunitinib, Tesevatinib, Topotecan, Trebananib, Valproic Acid, Vinblastine, Vitespen, Vorinostat.
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 3
Druggability breadth: 2 of 4 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| SDHA | LINEZOLID |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| SDHA | 1 | 4 |
| TSC2 | 0 | 0 |
| ACRBP | 0 | 0 |
| NF1 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| LINEZOLID | 4 | SDHA |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| SDHA | 3 | Binding:3 |
| TSC2 | 1 | Binding:1 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
1 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| LINEZOLID | 4 | SDHA |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | SDHA |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 3 | TSC2, ACRBP, NF1 |
Undrugged target profiles
3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| TSC2 | 1 | — |
| ACRBP | 0 | — |
| NF1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 649.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 369 |
| PHASE1 | 88 |
| PHASE2 | 79 |
| PHASE1/PHASE2 | 35 |
| PHASE3 | 32 |
| EARLY_PHASE1 | 23 |
| PHASE4 | 18 |
| PHASE2/PHASE3 | 5 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02670161 | PHASE4 | ENROLLING_BY_INVITATION | Quality Improvement and Practice Based Research in Neurology Using the EMR |
| NCT05926336 | PHASE4 | RECRUITING | The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action |
| NCT00075166 | PHASE4 | COMPLETED | Surgery Versus Radiosurgery to Treat Metastatic Brain Tumors |
| NCT00336531 | PHASE4 | COMPLETED | Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation |
| NCT00395863 | PHASE4 | COMPLETED | Multihance at 3 Tesla (3T) in Brain Tumors |
| NCT00415467 | PHASE4 | TERMINATED | Treatment of Resectable Malignant Brain Tumors |
| NCT00576472 | PHASE4 | COMPLETED | Learning Impairments Among Survivors of Childhood Cancer |
| NCT00952081 | PHASE4 | COMPLETED | A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients |
| NCT02057367 | PHASE4 | COMPLETED | Scalp Nerve Block and Opioid Consumption in Brain Surgery |
| NCT02334722 | PHASE4 | COMPLETED | 1 Week Versus 6 Weeks of Levetiracetam in Surgical Brain Tumor Patients |
| NCT02558569 | PHASE4 | COMPLETED | The Use of Fentanyl in General Anesthesia for Craniotomy With or Without 0.5% Levobupivacaine Scalp Block |
| NCT02713087 | PHASE4 | COMPLETED | Vasopressor Effects in Anesthetized Patients |
| NCT02810899 | PHASE4 | COMPLETED | Dexmedetomidine and Intelligence Development in Pediatric Patients Undergoing Craniotomy |
| NCT02964416 | PHASE4 | COMPLETED | Single Dose Tramadol Effect on Extubation Response and Quality of Emergence Post-supratentorial Intracranial Surgery |
| NCT04266665 | PHASE4 | COMPLETED | Effect of Dexmedetomidine on Brain Homeostasis and Neurocognitive Outcome |
| NCT04313374 | PHASE4 | COMPLETED | Integrated Pulmonary Index and Opioid Based Patient Controlled Analgesia |
| NCT05141877 | PHASE4 | UNKNOWN | Influences of Propofol and Sevoflurane Anesthesia in Brain Tumor |
| NCT05202899 | PHASE4 | UNKNOWN | Effect of Sugammadex for Reversal of Rocuronium-induced Neuromuscular Block on Perioperative Management of Awake Craniotomy |
| NCT02066220 | PHASE2/PHASE3 | ACTIVE_NOT_RECRUITING | International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma |
| NCT04706910 | PHASE3 | RECRUITING | 18F-DOPA II - PET Imaging Optimization |
| NCT05317858 | PHASE3 | RECRUITING | Blood-brain Barrier (BBB) Opening Using Exablate Focused Ultrasound With Standard of Care Treatment of NSCLC Brain Mets |
| NCT05770544 | PHASE2/PHASE3 | RECRUITING | DETERMINE Trial Treatment Arm 03: Entrectinib in Adult, Paediatric and Teenage/Young Adult Patients With ROS1 Gene Fusion-Positive Cancers. |
| NCT05897658 | PHASE3 | NOT_YET_RECRUITING | Levetiracetam Prophylaxis in Brain Tumor Resection Pilot |
| NCT06229483 | PHASE3 | RECRUITING | The Effects of Intraoperative Tranexamic Acid on Perioperative Bleeding In Craniotomies |
| NCT06388733 | PHASE3 | RECRUITING | A Study Comparing Niraparib With Temozolomide in Adult Participants With Newly-diagnosed, MGMT Unmethylated Glioblastoma |
| NCT06442748 | PHASE3 | RECRUITING | Short Versus Long-term Levetiracetam in Brain Tumors |
| NCT06496971 | PHASE3 | RECRUITING | A Prospective Pivotal Study to Evaluate the Efficacy and Safety of Avastin® Bevacizumab (BEV) With or Without Microbubble-mediated Focused Ultrasound (FUS-MB) Using NaviFUS System in Recurrent Glioblastoma Multiforme Patients |
| NCT07165262 | PHASE3 | ACTIVE_NOT_RECRUITING | Effect of Different Anesthetic Drugs on Electrocorticography (ECOG). |
| NCT00002875 | PHASE3 | COMPLETED | Radiation Therapy Plus Combination Chemotherapy in Treating Children With Medulloblastoma |
| NCT00002944 | PHASE3 | COMPLETED | Combination Chemotherapy in Treating Children With Progressive Brain Tumors |
| NCT00045968 | PHASE3 | UNKNOWN | Study of a Drug [DCVax®-L] to Treat Newly Diagnosed GBM Brain Cancer |
| NCT00054795 | PHASE3 | COMPLETED | Study of Neurologic Progression With Motexafin Gadolinium and Radiation Therapy (SMART) |
| NCT00078988 | PHASE3 | COMPLETED | High-Dose Chemotherapy Plus Autologous Stem Cell Transplantation Compared With Intermediate-Dose Chemotherapy Plus Autologous Stem Cell Transplantation With or Without Isotretinoin in Treating Young Patients With Recurrent High-Grade Gliomas |
| NCT00085098 | PHASE3 | COMPLETED | Radiation Therapy Compared With Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Primary Central Nervous System (CNS) Germ Cell Tumor |
| NCT00088166 | PHASE3 | COMPLETED | XERECEPT® (hCRF) for Patients Requiring Dexamethasone to Treat Edema Associated With Brain Tumors |
| NCT00123760 | PHASE2/PHASE3 | COMPLETED | Study of 18F-Fluorodeoxyglucose (FluGlucoScan) in Patients With Cancer or Suspected Cancer |
| NCT00124761 | PHASE3 | COMPLETED | A Trial Comparing Radiosurgery With Surgery for Solitary Brain Metastases |
| NCT00135876 | PHASE3 | COMPLETED | Dalteparin Low Molecular Weight Heparin for Primary Prophylaxis of Venous Thromboembolism in Brain Tumour Patients |
| NCT00138788 | PHASE3 | COMPLETED | Brain Metastases Study: Radiotherapy Fractionation Schemes in the Treatment of Brain Metastases |
| NCT00181350 | PHASE3 | COMPLETED | Serial CT Scans in Fractionated Stereotactic Radiotherapy |
Drugs tested across these trials (top 30)
Related Atlas pages
- Cohort genes: SDHA, TSC2, NF1, ACRBP
- Drugs: Aminolevulinic Acid, Lomustine, 2-MERCAPTOETHANESULFONIC ACID, Indocyanine Green Acid Form, Mannitol, Thiotepa, Donepezil, Ferumoxytol, Filgrastim, Levetiracetam, Procarbazine, Sorbitol, Sugammadex, Carmustine, Gadobenate Dimeglumine, Isotretinoin, Phenylbutanoic Acid, Sorafenib, Temozolomide, Vincristine, Abemaciclib, Alectinib, Amifostine, Armodafinil, Asciminib, Atezolizumab, Brivaracetam, Brodalumab, Carboplatin, Cemiplimab