Uterine benign neoplasm

Summary

Uterine benign neoplasm (MONDO:0000632) is a cancer (an umbrella term covering 5 Mondo subtypes) with 2 GWAS associations across 8 studies and 3 clinical trials. A subtype of benign female reproductive system neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 5 Mondo subtypes
• GWAS associations: 2
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	uterine benign neoplasm
Mondo ID	MONDO:0000632
DOID	DOID:0060095
NCIT	C3609
SNOMED CT	92470003
UMLS	C0153999
MedGen	57809
Anatomy (UBERON)	UBERON:0000995
Is cancer (heuristic)	yes

Also known as: benign neoplasm of the uterus · benign neoplasm of uterus · benign tumor of the uterus · benign tumor of uterus · benign tumour of the uterus · benign tumour of uterus · benign uterine neoplasm · benign uterine neoplasms · benign uterine tumor · benign uterine tumors · benign uterine tumour · benign uterine tumours · benign uterus neoplasm · benign uterus neoplasms · benign uterus tumor · benign uterus tumors · benign uterus tumour · benign uterus tumours · uterine neoplasms, benign · uterine tumors, benign (+3 more)

Data availability: 2 GWAS associations (8 studies).

Disease family

This is a subtype of benign female reproductive system neoplasm. 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 › neoplastic disease or syndrome › neoplasm › benign neoplasm › benign reproductive system neoplasm › benign female reproductive system neoplasm › uterine benign neoplasm

Related subtypes (6): vulvar benign neoplasm, fallopian tube benign neoplasm, ovarian benign neoplasm, benign vaginal neoplasm, adenomyoma, adenofibroma

Subtypes (5): cervical benign neoplasm, uterus intravascular leiomyomatosis, benign neoplasm of endometrium, benign neoplasm of placenta, benign neoplasm of corpus uteri

Genetics & variants

GWAS landscape

2 GWAS associations across 8 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs3782122	3e-17	BET1L	?
rs5977691	2e-14	MBNL3, RAP2C-AS1	?	1.22

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90435666	Zhou W	2018	10,610	391,653	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651194	Liu TY	2025	4,595	112,946	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477274	Verma A	2024	3,542	11,923	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481036	Verma A	2024	3,542	11,923	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477275	Verma A	2024	1,864	29,676	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477273	Verma A	2024	530	5,205	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435668	Zhou W	2018	356	391,653	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90837538	Koyama S	2025	0	0	Genetics and context for precision health in Greater Boston.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

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	1
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs3782122	11	205780	T>A,C	0.05	intron_variant	BET1L	3e-17	Tier 4: intronic/intergenic
rs5977691	X	132371232	C>T	0.05	3_prime_UTR_variant	MBNL3, RAP2C-AS1	2e-14	Tier 2: splice/UTR

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: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05188716	Not specified	COMPLETED	Mechanisms and Biomarkers for Tumor Immunogenicity Modulation in Cervical Cancer
NCT05569200	Not specified	UNKNOWN	The Clinical Trial About Treatment of Benign Uterus Myoma by Haifu Focused Ultrasound Tumor Therapeutic System
NCT06817460	Not specified	COMPLETED	A Clinical Study Comparing the Effectiveness and Safety of Three Surgical Pathways for Laparoscopic Total Hysterectomy