Uterine adnexa cancer

Summary

Uterine adnexa cancer (MONDO:0001351) is a cancer with 1 GWAS associations across 3 studies. A subtype of uterine cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• GWAS associations: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	uterine adnexa cancer
Mondo ID	MONDO:0001351
DOID	DOID:11747
UMLS	C0153584
MedGen	509333
Is cancer (heuristic)	yes

Data availability: 1 GWAS association (3 studies).

Disease family

This is a subtype of uterine cancer. 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 › cancer › reproductive system cancer › female reproductive organ cancer › uterine cancer › uterine adnexa cancer

Related subtypes (6): placenta cancer, cervical cancer, uterine carcinoma, uterine corpus cancer, uterine carcinosarcoma, endometrial cancer

Subtypes (2): broad ligament malignant neoplasm, round ligament malignant neoplasm

Genetics & variants

GWAS landscape

1 GWAS associations across 3 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs150022363	3e-07	CWC22 - SCHLAP1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90435610	Zhou W	2018	2,127	389,695	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90652081	Liu TY	2025	740	112,967	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90481509	Verma A	2024	243	32,628	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	1

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs150022363	2	180247418	C>G		intron_variant	CWC22 - SCHLAP1	3e-07	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: 0.