Anal polyp

Summary

Anal polyp (MONDO:0060766) is a disease with 1 GWAS associations across 3 studies and 1 clinical trial. A subtype of anus disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	anal polyp
Mondo ID	MONDO:0060766
ICD-10-CM	K62.0
ICD-11	2038426249
NCIT	C3957
SNOMED CT	88580009
UMLS	C0267573
MedGen	75637
Anatomy (UBERON)	UBERON:0001245
Is cancer (heuristic)	no

Also known as: anal polyp · polyp of anus · polyp of the anus

Data availability: 1 GWAS association (3 studies).

Disease family

This is a subtype of anus 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 › digestive system disorder › intestinal disorder › large intestine disorder › rectal disorder › anus disorder › anal polyp

Related subtypes (6): imperforate anus, anorectal stricture, anal spasm, anus neoplasm, proctitis, levator syndrome

Subtypes (1): fibroepithelial polyp of the anus

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
rs143703976	2e-08	PTBP2 - DPYD	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90080262	Backman JD	2021	1,480	386,450	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084248	Backman JD	2021	1,480	386,450	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651544	Liu TY	2025	242	223,356	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

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
rs143703976	1	96905051	A>G		intergenic_variant	PTBP2 - DPYD	2e-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
NCT05409820	Not specified	COMPLETED	Comparative Analysis of Hypobaric Versus Hyperbaric Bupivacaine for Spinal Anesthesia in Day-Case Anorectal Surgery