Endocrine gland neoplasm
diseaseOn this page
Also known as endocrine gland neoplasm (disease)endocrine gland tumorendocrine gland tumourendocrine neoplasmendocrine system neoplasmendocrine system tumorendocrine system tumourendocrine tumorendocrine tumourmalignant endocrine tumormalignant endocrine tumourneoplasm of endocrine glandtumor of endocrine glandtumour of endocrine gland
Summary
Endocrine gland neoplasm (MONDO:0002082) is a cancer (an umbrella term covering 14 Mondo subtypes) with 4 cohort genes (4 GWAS associations across 5 studies; 3 CIViC-evidence somatic drivers; 4 ClinVar predisposition records) and 25 clinical trials. Top therapeutic interventions include gemcitabine, niraparib, and pralsetinib.
At a glance
- Classification: Cancer
- Umbrella term: 14 Mondo subtypes
- Cohort genes: 4
- GWAS associations: 4
- ClinVar variants: 4
- Clinical trials: 25
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | endocrine gland neoplasm |
| Mondo ID | MONDO:0002082 |
| EFO | EFO:0003769 |
| NCIT | C3010 |
| SNOMED CT | 387922007 |
| UMLS | C0014132 |
| MedGen | 4044 |
| Anatomy (UBERON) | UBERON:0002368 |
| Is cancer (heuristic) | yes |
Also known as: endocrine gland neoplasm (disease) · endocrine gland tumor · endocrine gland tumour · endocrine neoplasm · endocrine system neoplasm · endocrine system tumor · endocrine system tumour · endocrine tumor · endocrine tumour · malignant endocrine tumor · malignant endocrine tumour · neoplasm of endocrine gland · tumor of endocrine gland · tumour of endocrine gland
Data availability: 4 ClinVar variants · 4 GWAS associations (5 studies).
Disease family
An umbrella term covering 14 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › endocrine gland neoplasm
Related subtypes (47): pre-malignant neoplasm, giant cell tumor, hematopoietic and lymphoid system neoplasm, skin neoplasm, mesenchymal cell neoplasm, epidural spinal canal neoplasm, skeletal muscle neoplasm, trophoblastic neoplasm, cancer, germ cell tumor, benign neoplasm, upper aerodigestive tract neoplasm, histiocytoma, embryonal neoplasm, head and neck neoplasm, epithelial neoplasm, reproductive system neoplasm, non-seminomatous lesion, odontogenic cyst, phosphaturic mesenchymal tumor, thyroglossal duct cyst, hamartoma, mesenchymoma, mesothelial neoplasm, peritoneal neoplasm, virus associated tumor, nail tumor, respiratory tract neoplasm, spindle cell neoplasm, mixed neoplasm, urinary system neoplasm, cystic neoplasm, childhood neoplasm, melanocytic neoplasm, digestive system neoplasm, nervous system neoplasm, neoplasm of thorax, connective tissue neoplasm, bronchial adenomas/carcinoids childhood, diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, erythroplakia, retroperitoneal neoplasm, cardiovascular neoplasm, dermoid or epidermoid cyst of the central nervous system, connective and soft tissue neoplasm, NTRK fusion positive cancer, RET fusion positive cancer
Subtypes (14): benign endocrine neoplasm, thymus neoplasm, granulosa cell tumor, thyroid tumor, pituitary tumor, familial tumoral calcinosis, neuroendocrine neoplasm, malignant endocrine neoplasm, non-functioning endocrine neoplasm, functioning endocrine neoplasm, adrenal gland neoplasm, pineal body neoplasm, tumor of parathyroid gland, liver and intrahepatic bile duct neoplasm
Genetics & variants
GWAS landscape
4 GWAS associations across 5 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 |
|---|---|---|---|---|
| rs150494521 | 2e-12 | KDR - RN7SL822P | A | 2.97 |
| chr9:100527157 | 3e-12 | A | 0.3 | |
| rs187381978 | 7e-12 | TMEM163 | C | 2.34 |
| rs138515848 | 9e-12 | NT5ELP | C | 2.53 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475601 | Verma A | 2024 | 1,410 | 448,683 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479816 | Verma A | 2024 | 347 | 121,286 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481523 | Verma A | 2024 | 347 | 121,286 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90246045 | Walters RG | 2023 | 130 | 75,734 | Genotyping and population characteristics of the China Kadoorie Biobank. |
| GCST90435626 | Zhou W | 2018 | 90 | 407,399 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
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 | 4 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 3 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 2 |
| intergenic_variant | 1 |
| unknown | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs150494521 | 4 | 55144369 | A>G | 0 | intergenic_variant | KDR - RN7SL822P | 2e-12 | Tier 4: intronic/intergenic |
| chr9:100527157 | 0.382 | 3e-12 | Tier 4: intronic/intergenic | |||||
| rs187381978 | 2 | 134620027 | C>G | 0.001 | intron_variant | TMEM163 | 7e-12 | Tier 4: intronic/intergenic |
| rs138515848 | 5 | 64415715 | C>A | 0 | intron_variant | NT5ELP | 9e-12 | Tier 4: intronic/intergenic |
ClinVar germline variants
4 retrieved; paginated sample, class counts are floors:
3 conflicting classifications of pathogenicity, 1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 4072153 | NM_024666.5(AAGAB):c.535+1G>T | AAGAB | Pathogenic | criteria provided, single submitter |
| 133842 | NM_024529.5(CDC73):c.412C>A (p.Pro138Thr) | CDC73 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 161294 | NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) | MEN1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 241333 | NM_020975.6(RET):c.1063+9G>A | RET | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
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 |
|---|---|---|---|
| CDC73 | Act | UCEC | |
| MEN1 | LoF | ACC,BLCA,BRCA,HCC,LUNG,PANCREAS,PANET,WDTC | CIViC #3485 |
| RET | Act | ANGS,MEL,NSCLC,PGNG,SOFT_TISSUE,WDTC | CIViC #42 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| CDC73 | Orphanet:143 | Parathyroid carcinoma |
| CDC73 | Orphanet:99879 | Familial isolated hyperparathyroidism |
| CDC73 | Orphanet:99880 | Hyperparathyroidism-jaw tumor syndrome |
| AAGAB | Orphanet:79501 | Punctate palmoplantar keratoderma type 1 |
| MEN1 | Orphanet:2965 | Prolactinoma |
| MEN1 | Orphanet:314786 | Silent pituitary adenoma |
| MEN1 | Orphanet:314790 | Null pituitary adenoma |
| MEN1 | Orphanet:652 | Multiple endocrine neoplasia type 1 |
| MEN1 | Orphanet:97279 | Insulinoma |
| MEN1 | Orphanet:99725 | Pituitary gigantism |
| MEN1 | Orphanet:99879 | Familial isolated hyperparathyroidism |
| RET | Orphanet:146 | Differentiated thyroid carcinoma |
| RET | Orphanet:1848 | Renal agenesis, bilateral |
| RET | Orphanet:247698 | Multiple endocrine neoplasia type 2A |
| RET | Orphanet:247709 | Multiple endocrine neoplasia type 2B |
| RET | Orphanet:276621 | Sporadic pheochromocytoma/secreting paraganglioma |
| RET | Orphanet:29072 | Hereditary pheochromocytoma-paraganglioma |
| RET | Orphanet:388 | Hirschsprung disease |
| RET | Orphanet:93100 | Renal agenesis, unilateral |
| RET | Orphanet:99361 | Isolated familial medullary thyroid carcinoma |
| RET | Orphanet:99803 | Haddad syndrome |
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 |
|---|---|---|---|---|---|
| CDC73 | HGNC:16783 | ENSG00000134371 | Q6P1J9 | Parafibromin | clinvar |
| AAGAB | HGNC:25662 | ENSG00000103591 | Q6PD74 | Alpha- and gamma-adaptin-binding protein p34 | clinvar |
| MEN1 | HGNC:7010 | ENSG00000133895 | O00255 | Menin | clinvar |
| RET | HGNC:9967 | ENSG00000165731 | P07949 | Proto-oncogene tyrosine-protein kinase receptor Ret | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| CDC73 | Parafibromin | Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. |
| AAGAB | Alpha- and gamma-adaptin-binding protein p34 | May be involved in endocytic recycling of growth factor receptors such as EGFR. |
| MEN1 | Menin | Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates ‘Lys-4’ of histone H3 (H3K4). |
| RET | Proto-oncogene tyrosine-protein kinase receptor Ret | Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-derived growth family factors (GDNF, NRTN,… |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.25
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 |
|---|---|---|---|
| Kinase | 1 | 6.9× | 0.273 |
| Other/Unknown | 3 | 1.3× | 0.404 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| CDC73 | Other/Unknown | no | Cdc73/Parafibromin, CDC73_C, Cdc73_N | |
| AAGAB | Other/Unknown | no | Alpha/Gamma-adaptin-bd_p34 | |
| MEN1 | Other/Unknown | no | Menin | |
| RET | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Cadherin-like_dom |
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 |
|---|---|
| calcaneal tendon | 1 |
| colonic epithelium | 1 |
| sural nerve | 1 |
| islet of Langerhans | 1 |
| mucosa of transverse colon | 1 |
| rectum | 1 |
| granulocyte | 1 |
| lower esophagus mucosa | 1 |
| right hemisphere of cerebellum | 1 |
| dorsal root ganglion | 1 |
| substantia nigra pars compacta | 1 |
| substantia nigra pars reticulata | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| CDC73 | 271 | ubiquitous | marker | calcaneal tendon, sural nerve, colonic epithelium |
| AAGAB | 282 | ubiquitous | marker | islet of Langerhans, rectum, mucosa of transverse colon |
| MEN1 | 271 | ubiquitous | marker | granulocyte, lower esophagus mucosa, right hemisphere of cerebellum |
| RET | 193 | broad | marker | substantia nigra pars reticulata, dorsal root ganglion, substantia nigra pars compacta |
Protein interactions among cohort
Intra-cohort edges: 2.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MEN1 | 5,226 |
| CDC73 | 4,592 |
| RET | 4,203 |
| AAGAB | 931 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| CDC73 | MEN1 | string_interaction |
| MEN1 | RET | string_interaction |
Structural data
PDB: 4 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MEN1 | O00255 | 69 |
| RET | P07949 | 34 |
| CDC73 | Q6P1J9 | 20 |
| AAGAB | Q6PD74 | 3 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 38. 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 |
|---|---|---|---|---|
| Formation of the beta-catenin:TCF transactivating complex | 2 | 80.1× | 0.003 | CDC73, MEN1 |
| TCF dependent signaling in response to WNT | 2 | 78.5× | 0.003 | CDC73, MEN1 |
| Signaling by WNT | 2 | 74.6× | 0.003 | CDC73, MEN1 |
| Protein ubiquitination | 1 | 271.9× | 0.026 | CDC73 |
| Formation of the nephric duct | 1 | 211.5× | 0.026 | RET |
| NPAS4 regulates expression of target genes | 1 | 165.5× | 0.026 | RET |
| Formation of the ureteric bud | 1 | 165.5× | 0.026 | RET |
| Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer | 1 | 122.8× | 0.026 | MEN1 |
| RHO GTPases activate IQGAPs | 1 | 115.3× | 0.026 | MEN1 |
| Dengue virus activates/modulates innate and adaptive immune responses | 1 | 112.0× | 0.026 | CDC73 |
| SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription | 1 | 102.9× | 0.026 | MEN1 |
| RNA Polymerase II Transcription | 2 | 15.0× | 0.026 | CDC73, MEN1 |
| Post-translational protein modification | 2 | 12.8× | 0.026 | CDC73, MEN1 |
| Gene expression (Transcription) | 2 | 11.9× | 0.026 | CDC73, MEN1 |
| Formation of WDR5-containing histone-modifying complexes | 1 | 88.5× | 0.027 | MEN1 |
| RET signaling | 1 | 86.5× | 0.027 | RET |
| Deactivation of the beta-catenin transactivating complex | 1 | 77.7× | 0.028 | MEN1 |
| Signaling by TGF-beta Receptor Complex | 1 | 66.8× | 0.028 | MEN1 |
| Formation of RNA Pol II elongation complex | 1 | 64.5× | 0.028 | CDC73 |
| RNA Polymerase II Transcription Elongation | 1 | 64.5× | 0.028 | CDC73 |
| E3 ubiquitin ligases ubiquitinate target proteins | 1 | 64.5× | 0.028 | CDC73 |
| Signaling by Hedgehog | 1 | 61.4× | 0.028 | CDC73 |
| Hedgehog ‘on’ state | 1 | 52.9× | 0.029 | CDC73 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 | 51.4× | 0.029 | MEN1 |
| Metabolism of proteins | 2 | 8.2× | 0.029 | CDC73, MEN1 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 1 | 48.8× | 0.030 | MEN1 |
| RNA Polymerase II Pre-transcription Events | 1 | 45.9× | 0.030 | CDC73 |
| Signaling by TGFB family members | 1 | 38.5× | 0.035 | MEN1 |
| CHD1 and CHD2 subfamily | 1 | 36.2× | 0.035 | CDC73 |
| Signal Transduction | 2 | 6.8× | 0.035 | CDC73, MEN1 |
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 |
|---|---|---|---|---|
| embryonic epithelial tube formation | 1 | 2106.5× | 0.009 | RET |
| posterior midgut development | 1 | 2106.5× | 0.009 | RET |
| positive regulation of metanephric glomerulus development | 1 | 1404.3× | 0.009 | RET |
| ureter maturation | 1 | 1053.2× | 0.009 | RET |
| Peyer’s patch morphogenesis | 1 | 1053.2× | 0.009 | RET |
| GDF15-GFRAL signaling pathway | 1 | 1053.2× | 0.009 | RET |
| MAPK cascade | 2 | 76.6× | 0.009 | MEN1, RET |
| positive regulation of mRNA 3’-end processing | 1 | 842.6× | 0.010 | CDC73 |
| endodermal cell fate commitment | 1 | 702.2× | 0.011 | CDC73 |
| negative regulation of cyclin-dependent protein serine/threonine kinase activity | 1 | 526.6× | 0.012 | MEN1 |
| T-helper 2 cell differentiation | 1 | 468.1× | 0.012 | MEN1 |
| lymphocyte migration into lymphoid organs | 1 | 468.1× | 0.012 | RET |
| positive regulation of extrinsic apoptotic signaling pathway in absence of ligand | 1 | 383.0× | 0.012 | RET |
| positive regulation of cell size | 1 | 324.1× | 0.012 | RET |
| glial cell-derived neurotrophic factor receptor signaling pathway | 1 | 300.9× | 0.012 | RET |
| positive regulation of cell cycle G1/S phase transition | 1 | 280.9× | 0.012 | CDC73 |
| membrane protein proteolysis | 1 | 263.3× | 0.012 | RET |
| positive regulation of cell adhesion mediated by integrin | 1 | 263.3× | 0.012 | RET |
| osteoblast development | 1 | 247.8× | 0.012 | MEN1 |
| neuron cell-cell adhesion | 1 | 247.8× | 0.012 | RET |
| enteric nervous system development | 1 | 247.8× | 0.012 | RET |
| negative regulation of myeloid cell differentiation | 1 | 234.1× | 0.012 | CDC73 |
| response to pain | 1 | 221.7× | 0.012 | RET |
| regulation of axonogenesis | 1 | 221.7× | 0.012 | RET |
| negative regulation of cell population proliferation | 2 | 21.1× | 0.012 | CDC73, MEN1 |
| neuron maturation | 1 | 200.6× | 0.013 | RET |
| obsolete negative regulation of DNA-binding transcription factor activity | 1 | 183.2× | 0.014 | MEN1 |
| negative regulation of protein phosphorylation | 1 | 145.3× | 0.016 | MEN1 |
| response to gamma radiation | 1 | 145.3× | 0.016 | MEN1 |
| mRNA 3’-end processing | 1 | 140.4× | 0.016 | CDC73 |
Therapeutics
Drugs indicated for this disease
0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Lanreotide | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Dexamethasone, Metformin, Trabectedin.
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 3 · Undrugged: 1
Druggability breadth: 3 of 4 evidence-associated genes (75%) 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 |
|---|---|
| MEN1 | LOPERAMIDE |
| RET | PONATINIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| MEN1 | 475 | 4 |
| RET | 135 | 4 |
| CDC73 | 1 | 2 |
| AAGAB | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| LOPERAMIDE | 4 | MEN1 |
| CANDESARTAN CILEXETIL | 4 | MEN1 |
| EVANS BLUE FREE ACID | 4 | MEN1 |
| DIENESTROL | 4 | MEN1 |
| BEXAROTENE | 4 | MEN1 |
| IFOSFAMIDE | 4 | MEN1 |
| PROGESTERONE | 4 | MEN1 |
| CLOTRIMAZOLE | 4 | MEN1 |
| AMINOCAPROIC ACID | 4 | MEN1 |
| LATANOPROST | 4 | MEN1 |
| FLUORESCEIN | 4 | MEN1 |
| OXCARBAZEPINE | 4 | MEN1 |
| SALMETEROL XINAFOATE | 4 | MEN1 |
| AMIODARONE HYDROCHLORIDE | 4 | MEN1 |
| TRICLABENDAZOLE | 4 | MEN1 |
| TRYPAN BLUE FREE ACID | 4 | MEN1 |
| MIGALASTAT | 4 | MEN1 |
| DROPERIDOL | 4 | MEN1 |
| ARIPIPRAZOLE | 4 | MEN1 |
| AMOXAPINE | 4 | MEN1 |
| RALOXIFENE HYDROCHLORIDE | 4 | MEN1 |
| IDARUBICIN | 4 | MEN1 |
| ACETAMINOPHEN | 4 | MEN1 |
| OXYBUTYNIN CHLORIDE | 4 | MEN1 |
| DECAMETHONIUM BROMIDE | 4 | MEN1 |
| DESLORATADINE | 4 | MEN1 |
| DITHIAZANINE | 4 | MEN1 |
| TRIMETREXATE | 4 | MEN1 |
| NICARDIPINE HYDROCHLORIDE | 4 | MEN1 |
| PROTRIPTYLINE HYDROCHLORIDE | 4 | MEN1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| RET | 1,586 | Binding:1573, Functional:10, ADMET:3 |
| MEN1 | 93 | Binding:86, Functional:7 |
| CDC73 | 8 | Binding:8 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| RET | 2.7.10.1 | receptor protein-tyrosine kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| RET | 1,586 |
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
30 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) |
|---|---|---|
| LOPERAMIDE | 4 | MEN1 |
| CANDESARTAN CILEXETIL | 4 | MEN1 |
| EVANS BLUE FREE ACID | 4 | MEN1 |
| DIENESTROL | 4 | MEN1 |
| BEXAROTENE | 4 | MEN1 |
| IFOSFAMIDE | 4 | MEN1 |
| PROGESTERONE | 4 | MEN1 |
| CLOTRIMAZOLE | 4 | MEN1 |
| AMINOCAPROIC ACID | 4 | MEN1 |
| LATANOPROST | 4 | MEN1 |
| FLUORESCEIN | 4 | MEN1 |
| OXCARBAZEPINE | 4 | MEN1 |
| SALMETEROL XINAFOATE | 4 | MEN1 |
| AMIODARONE HYDROCHLORIDE | 4 | MEN1 |
| TRICLABENDAZOLE | 4 | MEN1 |
| TRYPAN BLUE FREE ACID | 4 | MEN1 |
| MIGALASTAT | 4 | MEN1 |
| DROPERIDOL | 4 | MEN1 |
| ARIPIPRAZOLE | 4 | MEN1 |
| AMOXAPINE | 4 | MEN1 |
| RALOXIFENE HYDROCHLORIDE | 4 | MEN1 |
| IDARUBICIN | 4 | MEN1 |
| ACETAMINOPHEN | 4 | MEN1 |
| OXYBUTYNIN CHLORIDE | 4 | MEN1 |
| DECAMETHONIUM BROMIDE | 4 | MEN1 |
| DESLORATADINE | 4 | MEN1 |
| DITHIAZANINE | 4 | MEN1 |
| TRIMETREXATE | 4 | MEN1 |
| NICARDIPINE HYDROCHLORIDE | 4 | MEN1 |
| PROTRIPTYLINE HYDROCHLORIDE | 4 | MEN1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 2 | MEN1, RET |
| B | Phased (≥1) drug, not yet approved | 1 | CDC73 |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | AAGAB |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| AAGAB | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 25.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 13 |
| PHASE2 | 6 |
| PHASE3 | 2 |
| PHASE1/PHASE2 | 2 |
| PHASE1 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00353496 | PHASE3 | COMPLETED | Study of Lanreotide Autogel in Non-functioning Entero-pancreatic Endocrine Tumours |
| NCT01964430 | PHASE3 | COMPLETED | Nab-paclitaxel and Gemcitabine vs Gemcitabine Alone as Adjuvant Therapy for Patients With Resected Pancreatic Cancer (the Apact Study) |
| NCT03412877 | PHASE2 | RECRUITING | Administration of Autologous T-Cells Genetically Engineered to Express T-Cell Receptors Reactive Against Neoantigens in People With Metastatic Cancer |
| NCT00050414 | PHASE2 | COMPLETED | A Study of Trabectedin in Patients With Advanced Ovarian Cancer |
| NCT00180960 | PHASE2 | TERMINATED | Treatment of a Cancerous Disease of the Peritoneum With Complete Cytoreductive Surgery and Intraperitoneal Chemohyperthermia |
| NCT03037385 | PHASE1/PHASE2 | COMPLETED | Phase 1/2 Study of the Highly-selective RET Inhibitor, Pralsetinib (BLU-667), in Participants With Thyroid Cancer, Non-Small Cell Lung Cancer, and Other Advanced Solid Tumors |
| NCT03535727 | PHASE1/PHASE2 | COMPLETED | A Study of Gemcitabine, Nab-paclitaxel, Capecitabine, Cisplatin, and Irinotecan in Metastatic Pancreatic Cancer |
| NCT03562897 | PHASE2 | COMPLETED | Evaluation of Ocoxin-Viusid® in Advanced or Metastatic Ovarian Epithelial Cancer |
| NCT03717298 | PHASE2 | COMPLETED | Evaluation of Ocoxin-Viusid® in Advanced Pancreatic Adenocarcinoma |
| NCT04556071 | PHASE2 | UNKNOWN | Efficacy and Safety of Niraparib Combined With Bevacizumab in Platinum Refractory/Resistant Recurrent Ovarian Cancer |
| NCT02897778 | PHASE1 | COMPLETED | Cardiac Safety Study of Entinostat in Men and Women With Advanced Solid Tumors |
| NCT02909452 | PHASE1 | COMPLETED | Continuation Study of Entinostat in Combination With Pembrolizumab in Patients With Advanced Solid Tumors |
| NCT01005654 | Not specified | RECRUITING | Prospective Comprehensive Molecular Analysis of Endocrine Neoplasms |
| NCT01109394 | Not specified | RECRUITING | Comprehensive Omics Analysis of Pediatric and Adult Solid Tumors and Establishment of a Repository for Related Biological Studies |
| NCT01763125 | Not specified | RECRUITING | Establishment of a Tumor Bank for Blood Samples |
| NCT01789229 | Not specified | RECRUITING | Establishment of a Tumor Bank for Tissue Samples |
| NCT03410394 | Not specified | RECRUITING | Registry of Endocrine Tumors (Thyroid, Parathyroid, Adrenal, Endocrine Pancreas, Endocrine Digestive Tube) |
| NCT04493632 | Not specified | RECRUITING | OSPREY is a Post-market, Global, Multicentre, Observational, Prospective Registry. |
| NCT04949282 | Not specified | RECRUITING | Spanish Series of Patients Treated With the Radionuclide Lutetium177 |
| NCT05974696 | Not specified | RECRUITING | A Research Registry on Aggressive PitNETs |
| NCT07606287 | Not specified | NOT_YET_RECRUITING | Studying the Workflow of the American College of Surgeons Geriatric Surgery Program to Improve Clinical Outcomes in Older Adults Undergoing Surgery at the James Cancer Hospital |
| NCT01621295 | Not specified | COMPLETED | Assessing the Patient Experience in Cancer Care |
| NCT02330497 | Not specified | COMPLETED | Efficacy and Safety of Radiofrequency Ablation in Pancreatic Neuroendocrine and Cystic Tumor |
| NCT05022667 | Not specified | COMPLETED | Assessing Benefits of Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Total Thyroidectomy |
| NCT05152927 | Not specified | COMPLETED | Near Infrared Autofluorescence (NIRAF) Detection for Identifying Parathyroid Glands During Parathyroidectomy |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| GEMCITABINE | 4 | 2 |
| NIRAPARIB | 4 | 1 |
| PRALSETINIB | 4 | 1 |
| TRABECTEDIN | 4 | 1 |
| ENTINOSTAT | 3 | 2 |
| CHEMBL4297597 | 0 | 1 |
Related Atlas pages
- Cohort genes: CDC73, MEN1, RET, AAGAB
- Drugs: Gemcitabine, Niraparib, Pralsetinib, Trabectedin, Entinostat