Dysplasia of cervix

Summary

Dysplasia of cervix (MONDO:0006736) is a disease with 12 GWAS associations across 20 studies. A subtype of reproductive system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 12

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	dysplasia of cervix
Mondo ID	MONDO:0006736
EFO	EFO:1000910
MeSH	D002578
SNOMED CT	73391008
UMLS	C0007868
MedGen	2971
MedDRA	10013957
Is cancer (heuristic)	no

Data availability: 12 GWAS associations (20 studies).

Disease family

This is a subtype of reproductive system 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 › dysplasia of cervix

Related subtypes (29): pelvic organ prolapse, cortisone reductase deficiency, physiological sexual disorder, gonadal disorder, female reproductive system disorder, male reproductive system disorder, pituitary gland disorder, infertility disorder, hypospadias, reproductive system neoplasm, female genital tuberculosis, habitual spontaneous abortion, aromatase excess syndrome, hand-foot-genital syndrome, mullerian duct anomalies-limb anomalies syndrome, Currarino triad, double uterus-hemivagina-renal agenesis syndrome, congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, spondylocostal dysostosis-anal and genitourinary malformations syndrome, congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, estrogen resistance syndrome, short stature, microcephaly, and endocrine dysfunction, diethylstilbestrol syndrome, sexually transmitted disease, NR5A1-related sex development disorder

Subtypes (1): cervical intraepithelial neoplasia

Genetics & variants

GWAS landscape

12 GWAS associations across 20 studies. Top hits map to 8 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs28718232	1e-37	HLA-DQA1 - HLA-DQB1	A	1.16
rs36214159	2e-22	HLA-DQA1	G	0.79
rs11123172	2e-10	PAX8-AS1, PAX8	T	1.07
rs6866294	2e-10	MIR4457 - CLPTM1L	T	0.93
rs12611652	3e-09	PKP4-AS1	A	0.92
rs1049137	6e-09	PAX8-AS1, PAX8	G	0.92
rs1053726	9e-09	HLA-B	G	0.91
rs10737462	3e-08	WNT4	C	0.93
rs425787	4e-08	Y_RNA - CD70	?
rs61832445	8e-07	VASH2	?
rs2268177	8e-06	CDC42	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90454218	Pujol Gualdo N	2025	21,126	206,472	Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.
GCST90246357	Koel M	2023	14,694	150,563	GWAS meta-analyses clarify genetics of cervical phenotypes and inform risk stratification for cervical cancer.
GCST90266933	Koel M	2023	14,694	551,136	GWAS meta-analyses clarify genetics of cervical phenotypes and inform risk stratification for cervical cancer.
GCST90080674	Backman JD	2021	3,148	205,857	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084660	Backman JD	2021	3,148	205,857	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90652211	Liu TY	2025	2,256	111,969	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90435607	Zhou W	2018	2,090	381,902	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90077642	Backman JD	2021	1,872	37,742	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081628	Backman JD	2021	1,872	37,742	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90041922	Jiang L	2021	1,577	245,931	A generalized linear mixed model association tool for biobank-scale data.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	4
Tier 3: regulatory	0
Tier 4: intronic/intergenic	7

MAF distribution

Bucket	Variants
common (>=0.05)	11
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intergenic_variant	4
3_prime_UTR_variant	4
intron_variant	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs28718232	6	32658973	A>G	0.05	intergenic_variant	HLA-DQA1 - HLA-DQB1	1e-37	Tier 4: intronic/intergenic
rs36214159	6	32643982	T>G	0.09	intergenic_variant	HLA-DQA1	2e-22	Tier 4: intronic/intergenic
rs11123172	2	113226726	T>C	0.05	intron_variant	PAX8-AS1, PAX8	2e-10	Tier 4: intronic/intergenic
rs6866294	5	1311578	T>A,C	0.05	intergenic_variant	MIR4457 - CLPTM1L	2e-10	Tier 4: intronic/intergenic
rs12611652	2	158773482	G>A,C,T	0.46	intron_variant	PKP4-AS1	3e-09	Tier 4: intronic/intergenic
rs1049137	2	113217533	A>G	0.26	3_prime_UTR_variant	PAX8-AS1, PAX8	6e-09	Tier 2: splice/UTR
rs1053726	6	31354270	A>G,T	0.19	3_prime_UTR_variant	HLA-B	9e-09	Tier 2: splice/UTR
rs10737462	1	22118482	C>G,T	0.05	3_prime_UTR_variant	WNT4	3e-08	Tier 2: splice/UTR
rs425787	19	6578940	T>A,C,G	0.05	intergenic_variant	Y_RNA - CD70	4e-08	Tier 4: intronic/intergenic
rs61832445	1	212988489	A>G	0.05	intron_variant	VASH2	8e-07	Tier 4: intronic/intergenic
rs2268177	1	22088917	A>C,G,T	0.05	3_prime_UTR_variant	CDC42	8e-06	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

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

10 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Fluorouracil	Phase 3
Imiquimod	Phase 3
Isotretinoin	Phase 3
Lidocaine	Phase 3
Celecoxib	Phase 2
Hexaminolevulinate	Phase 2
Nelfinavir	Phase 2
Paclitaxel	Phase 2
Progesterone	Phase 2
Sodium Bicarbonate	Phase 2

Clinical trials & evidence

Clinical trials

Clinical trials: 0.