Cervix disorder

Summary

Cervix disorder (MONDO:0002256) is a disease (an umbrella term covering 9 Mondo subtypes) with 1 GWAS associations across 5 studies and 1 clinical trial. A subtype of uterine disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 9 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cervix disorder
Mondo ID	MONDO:0002256
MeSH	D002577
DOID	DOID:2253
NCIT	C40241
SNOMED CT	63339007
UMLS	C0007867
MedGen	2970
Anatomy (UBERON)	UBERON:0000002
Is cancer (heuristic)	no

Also known as: cervical disorder · disease of uterine cervix · disease or disorder of uterine cervix · disorder of uterine cervix · uterine cervix disease · uterine cervix disease or disorder

Data availability: 1 GWAS association (5 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 › cervix disorder

Related subtypes (20): pyometritis, endometrial disorder, female infertility of uterine origin, uterine inflammatory disease, chronic subinvolution of uterus, adhesions of uterus, uterine polyp, 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 (9): cervical polyp, hypertrophic elongation of cervix, cervicitis, cervix endometriosis, uterine cervix leukoplakia, cervical incompetence, cervical metaplasia, cervix erosion, uterine cervix neoplasm

Genetics & variants

GWAS landscape

1 GWAS associations across 5 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
rs112740887	4e-08	TMCO4 - RNF186	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90436504	Zhou W	2018	2,884	399,629	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90080676	Backman JD	2021	1,130	210,838	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084662	Backman JD	2021	1,130	210,838	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651644	Liu TY	2025	298	126,652	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90482269	Verma A	2024	227	32,017	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
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs112740887	1	19809627	C>T		intergenic_variant	TMCO4 - RNF186	4e-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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03734965	Not specified	UNKNOWN	The Comparison of Awake Fiberoptic And Awake Video Laryngoscopy Tracheal Intubation in Cervical Surgery