Uterine polyp
diseaseOn this page
Also known as polyp of corpus uteripolyp of endometriumpolyp of the uteruspolyp of uterusuterus polyp
Summary
Uterine polyp (MONDO:0004701) is a disease with 2 GWAS associations across 11 studies and 2 clinical trials. Top therapeutic interventions include estradiol. A subtype of uterine disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 2
- Clinical trials: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | uterine polyp |
| Mondo ID | MONDO:0004701 |
| EFO | EFO:0009484 |
| DOID | DOID:9042 |
| ICD-10-CM | N84.0 |
| NCIT | C3662 |
| SNOMED CT | 11314008 |
| UMLS | C0156369 |
| MedGen | 57628 |
| Anatomy (UBERON) | UBERON:0000995 |
| Is cancer (heuristic) | no |
Also known as: polyp of corpus uteri · polyp of endometrium · polyp of the uterus · polyp of uterus · uterine polyp · uterus polyp
Data availability: 2 GWAS associations (11 studies).
Disease family
This is a subtype of uterine disorder. 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 body system or component › reproductive system disorder › female reproductive system disorder › uterine disorder › uterine polyp
Related subtypes (20): pyometritis, endometrial disorder, female infertility of uterine origin, uterine inflammatory disease, chronic subinvolution of uterus, adhesions of uterus, cervix disorder, pelvic congestion syndrome, uterine inversion, placenta disorder, hemometra, parametritis, cordiform uterus, septate uterus, bicornuate uterus, uterine hypoplasia, agenesis and aplasia of uterine body, tumor of uterus, florid cystic endosalpingiosis of the uterus, pregnancy, cornual
Subtypes (2): cervical polyp, endometrial polyp
Genetics & variants
GWAS landscape
2 GWAS associations across 11 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 |
|---|---|---|---|---|
| rs146151974 | 3e-11 | PLEKHG1 | G | 2.01 |
| rs374011362 | 5e-08 | LINC02450 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90436510 | Zhou W | 2018 | 7,910 | 396,384 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90044453 | Jiang L | 2021 | 6,552 | 240,988 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90077798 | Backman JD | 2021 | 1,439 | 330,315 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90081784 | Backman JD | 2021 | 1,439 | 330,315 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90077799 | Backman JD | 2021 | 1,299 | 176,595 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90081785 | Backman JD | 2021 | 1,299 | 176,595 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90651737 | Liu TY | 2025 | 945 | 126,166 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90482277 | Verma A | 2024 | 381 | 32,206 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480430 | Verma A | 2024 | 237 | 16,253 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90482276 | Verma A | 2024 | 237 | 16,253 | 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 | 0 |
| Tier 4: intronic/intergenic | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs146151974 | 6 | 150823192 | G>T | 0.004 | intron_variant | PLEKHG1 | 3e-11 | Tier 4: intronic/intergenic |
| rs374011362 | 12 | 42674682 | A>G | intron_variant | LINC02450 | 5e-08 | 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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05722028 | Not specified | COMPLETED | Predictive Factors for Successful Operative Hysteroscopy Using Tissue Removal Device (TruClear System) Without Anesthesia |
| NCT05783479 | Not specified | COMPLETED | Pharmacological Preparation of the Cervix for Hysteroscopy |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ESTRADIOL | 4 | 1 |
Related Atlas pages
- Drugs: Estradiol