Polyp
disease diseaseOn this page
Summary
Polyp (MONDO:0005079) is a disease (an umbrella term covering 21 Mondo subtypes) with 8 GWAS associations across 8 studies and 70 clinical trials. Top therapeutic interventions include calcium carbonate, folic acid, and propofol. A subtype of cancer or benign tumor — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 21 Mondo subtypes
- GWAS associations: 8
- Clinical trials: 70
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | polyp |
| Mondo ID | MONDO:0005079 |
| EFO | EFO:0000662 |
| MeSH | D011127 |
| ICD-10-CM | N84 |
| NCIT | C3340 |
| SNOMED CT | 441456002 |
| UMLS | C0032584 |
| MedGen | 19397 |
| Is cancer (heuristic) | no |
Also known as: polyp
Data availability: 8 GWAS associations (8 studies).
Disease family
This is a subtype of cancer or benign tumor. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › polyp
Related subtypes (4): hyperplasia, precancerous condition, neoplastic disease or syndrome, cancer-related condition
Subtypes (21): epulis, polyp of middle ear, uterine polyp, intestinal polyp, hyperplastic polyp, nasal cavity polyp, stomach polyp, neoplastic polyp, polyp of ureter, polyp of large intestine, polyp of vagina, polyp of vulva, polyp of external auditory canal, polyp of sphenoidal sinus, polyp of frontal sinus, polyp of maxillary sinus, polyp of gallbladder, polyp of ethmoidal sinus, polyp of vocal cord, gastrointestinal polyp, fibroepithelial polyp
Genetics & variants
GWAS landscape
8 GWAS associations across 8 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs142580029 | 9e-32 | LINC01429 - RNU6-347P | G | 5.49 |
| rs544784219 | 2e-29 | CASC15 | G | 5.87 |
| rs192216216 | 2e-29 | WARS2P1 - RPA2P2 | T | 5.22 |
| rs550140909 | 3e-25 | CASC15 | G | 6.68 |
| rs564574705 | 9e-23 | CASZ1 - HSPE1P24 | C | 5.65 |
| rs150501838 | 2e-13 | GPRC5B - GPR139 | C | 4.21 |
| rs571485135 | 2e-11 | PTGES - UBE2V1P4 | G | 2.17 |
| rs531841657 | 3e-11 | RNU6-546P - LINC01876 | A | 4.8 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90436361 | Zhou W | 2018 | 7,408 | 387,338 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90044177 | Jiang L | 2021 | 5,167 | 451,181 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90478441 | Verma A | 2024 | 3,409 | 432,437 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478440 | Verma A | 2024 | 749 | 117,582 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480332 | Verma A | 2024 | 749 | 117,582 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90080111 | Backman JD | 2021 | 740 | 387,190 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084097 | Backman JD | 2021 | 740 | 387,190 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90478439 | Verma A | 2024 | 608 | 57,609 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
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 | 1 |
| Tier 4: intronic/intergenic | 7 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 8 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intergenic_variant | 5 |
| intron_variant | 2 |
| regulatory_region_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs142580029 | 20 | 51872169 | G>C,T | 0 | regulatory_region_variant | LINC01429 - RNU6-347P | 9e-32 | Tier 3: regulatory |
| rs544784219 | 6 | 22256642 | G>A | 0.001 | intergenic_variant | CASC15 | 2e-29 | Tier 4: intronic/intergenic |
| rs192216216 | 10 | 81061489 | T>A,C | 0.001 | intergenic_variant | WARS2P1 - RPA2P2 | 2e-29 | Tier 4: intronic/intergenic |
| rs550140909 | 6 | 21685310 | G>A,C | 0.001 | intron_variant | CASC15 | 3e-25 | Tier 4: intronic/intergenic |
| rs564574705 | 1 | 10846424 | C>T | 0 | intergenic_variant | CASZ1 - HSPE1P24 | 9e-23 | Tier 4: intronic/intergenic |
| rs150501838 | 16 | 19987218 | C>G,T | 0.001 | intergenic_variant | GPRC5B - GPR139 | 2e-13 | Tier 4: intronic/intergenic |
| rs571485135 | 9 | 129774408 | G>A | 0.001 | intron_variant | PTGES - UBE2V1P4 | 2e-11 | Tier 4: intronic/intergenic |
| rs531841657 | 2 | 155348984 | A>G | 0 | intergenic_variant | RNU6-546P - LINC01876 | 3e-11 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated or in trials for this disease
No drug has an approved disease-direct ChEMBL indication for this disease.
6 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.
| Drug | Highest phase |
|---|---|
| Propofol | Phase 3 |
| Soybean Oil | Phase 3 |
| Fluticasone Propionate | Phase 2 |
| Hypromellose | Phase 2 |
| Methylprednisolone | Phase 2 |
| Sodium Chloride | Phase 2 |
Clinical trials & evidence
Clinical trials
Clinical trials: 70.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 58 |
| PHASE4 | 6 |
| PHASE2/PHASE3 | 2 |
| PHASE1 | 2 |
| PHASE3 | 1 |
| PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00114842 | PHASE4 | COMPLETED | Magnetic Resonance (MR) Colonography With Fecal Tagging |
| NCT00332943 | PHASE4 | COMPLETED | MR Colonography With Fecal Tagging. Barium vs. BariumFerumoxsil |
| NCT01124266 | PHASE4 | COMPLETED | Endoscopy Nurse Participation in Adenoma Detection Rate During Colonoscopy |
| NCT01461564 | PHASE4 | COMPLETED | Carbon Dioxide During Screening Unsedated Colonoscopy |
| NCT01807169 | PHASE4 | COMPLETED | Recto Colonic Endoscopic Mucosal Resection and Polypectomy Under Clopidogrel |
| NCT02937506 | PHASE4 | COMPLETED | Patient Satisfaction With Propofol for Out Patient Colonoscopy |
| NCT00153816 | PHASE2/PHASE3 | COMPLETED | Vitamin D/Calcium Polyp Prevention Study |
| NCT00272324 | PHASE2/PHASE3 | COMPLETED | Aspirin/Folate Prevention of Large Bowel Polyps |
| NCT00339625 | PHASE3 | COMPLETED | Polyp Prevention Trial |
| NCT05865496 | PHASE2 | UNKNOWN | A Study to Evaluate 611 in Patients With Chronic Rhinosinusitis With Nasal Polyps |
| NCT01451008 | PHASE1 | COMPLETED | Compression Anastomosis Using the Compression Anastomotic Ring-locking Procedure (CARP) |
| NCT01560377 | PHASE1 | COMPLETED | Perfusion Assessment in Laparoscopic Left Anterior Resection |
| NCT03708952 | Not specified | ACTIVE_NOT_RECRUITING | Lifestyle and Dietary Pattern in Relation to Precursor Lesions of Colorectal Cancer and Cardiometabolic Diseases |
| NCT05064124 | Not specified | RECRUITING | Early DiAgnosis Real-Time Healthcare System for CANcer Trial |
| NCT05551052 | Not specified | ACTIVE_NOT_RECRUITING | CRC Detection Reliable Assessment With Blood |
| NCT06481007 | Not specified | NOT_YET_RECRUITING | ALgerian Cholecystectomy Outcomes and Determinants Study (AL-CODS) |
| NCT07035691 | Not specified | RECRUITING | New bioMarkers tO straTIfy cOlorectal caNcer Referrals |
| NCT00124163 | Not specified | UNKNOWN | Evaluation of Stool Tagging for Improved Patient Compliance |
| NCT00145015 | Not specified | COMPLETED | FishGastro Study: Fish Consumption and Gastro-Intestinal Health |
| NCT00234650 | Not specified | COMPLETED | Adenoma Detection Rate With Position Change at Colonoscopy |
| NCT00237276 | Not specified | UNKNOWN | Experience and Enhancement: Improving Colonoscopic Polyp Detection |
| NCT00245492 | Not specified | COMPLETED | Chromocolonoscopy for the Detection of Flat Adenomas in Routine Colorectal Cancer Screening. |
| NCT00323999 | Not specified | UNKNOWN | Hysteroscopic Monopolar and Bipolar Resection |
| NCT00553436 | Not specified | COMPLETED | Evaluation of an Endoscopic Suturing System for Tissue Apposition in Colonic Polypectomy |
| NCT00577083 | Not specified | COMPLETED | Cap-fitted Colonoscopy: a Randomized, Tandem Colonoscopy Study of Adenoma Miss Rates |
| NCT00792649 | Not specified | UNKNOWN | Comparison Between HD+ Endoscopy and Standard Videoendoscopy in Screening Colonoscopy |
| NCT00979342 | Not specified | COMPLETED | Comparative Sedation Study of the MyoSure Hysteroscopic Tissue Removal System |
| NCT01152112 | Not specified | COMPLETED | HOME Study: Hysteroscopic Office Myomectomy Evaluation |
| NCT01369758 | Not specified | COMPLETED | MyoSure Hysteroscopic Tissue Removal System Registry Study |
| NCT01430208 | Not specified | COMPLETED | A New Alternative to Traditional Hysteroscopy |
| NCT01481337 | Not specified | COMPLETED | Endoscopic Mucosal Colonic Resection and Polypectomy Under Aspirin |
| NCT01552200 | Not specified | COMPLETED | Performance Evaluation of the NaviAid™ G-Eye System |
| NCT01688557 | Not specified | COMPLETED | Trial on Innovative Technologies in Colonoscopy |
| NCT01735266 | Not specified | COMPLETED | Left-colon WEC May Reduce Insertion Time Compared With Whole-colon WEC. |
| NCT01749722 | Not specified | COMPLETED | Safety and Efficacy of the NaviAid™ G-Eye System During Colonoscopy |
| NCT01820182 | Not specified | COMPLETED | Prospective Comparison of the Diagnostic Yield of Small Bowel Pillcam SB2 and Capsocam Capsule |
| NCT01917513 | Not specified | COMPLETED | Prospective Trial to Compare the Clinical Efficiency of G-EYE™ HD Colonoscopy With Standard HD Colonoscopy |
| NCT02034929 | Not specified | COMPLETED | EndoCuff-assisted Versus Standard Colonoscopy for Adenoma Detection |
| NCT02133027 | Not specified | UNKNOWN | Role of the Right Portal Pedicle and Rouviere’s Sulcus as an Anatomic Landmark in Laparoscopic Cholecystectomy |
| NCT02292563 | Not specified | COMPLETED | The Impact of Experienced Endoscopy Nurse Participation on Polyp and Adenoma Detection During Colonoscopy |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CALCIUM CARBONATE | 4 | 1 |
| FOLIC ACID | 4 | 1 |
| PROPOFOL | 4 | 1 |
Related Atlas pages
- Drugs: Calcium Carbonate, Folic Acid, Propofol