Cervix erosion

Summary

Cervix erosion (MONDO:0006696) is a disease with 4 GWAS associations across 4 studies. A subtype of cervix disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cervix erosion
Mondo ID	MONDO:0006696
MeSH	D002579
DOID	DOID:3456
SNOMED CT	61253004
UMLS	C0269189
MedGen	541802
MedDRA	10015128
Is cancer (heuristic)	no

Data availability: 4 GWAS associations (4 studies).

Disease family

This is a subtype of cervix 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 › cervix erosion

Related subtypes (8): cervical polyp, hypertrophic elongation of cervix, cervicitis, cervix endometriosis, uterine cervix leukoplakia, cervical incompetence, cervical metaplasia, uterine cervix neoplasm

Genetics & variants

GWAS landscape

4 GWAS associations across 4 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
rs4849169	2e-21	PSD4	A	0.88
rs10445377	2e-09	SKAP1	C	0.92
rs11903198	3e-09	GDF7 - LDAH	T	1.09
rs138832612	3e-08	PRRX2	C	0.13

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90454217	Pujol Gualdo N	2025	14,226	207,659	Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.
GCST90080671	Backman JD	2021	1,108	209,282	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084657	Backman JD	2021	1,108	209,282	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90727156	Kim HI	2026	458	43,568	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

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	4

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	3
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs4849169	2	113196080	A>C,T	0.05	intron_variant	PSD4	2e-21	Tier 4: intronic/intergenic
rs10445377	17	48136806	C>A,G,T	0.05	intron_variant	SKAP1	2e-09	Tier 4: intronic/intergenic
rs11903198	2	20680585	T>C	0.05	intergenic_variant	GDF7 - LDAH	3e-09	Tier 4: intronic/intergenic
rs138832612	9	129708199	C>T		intron_variant	PRRX2	3e-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: 0.