Disorder of appendix

Summary

Disorder of appendix (MONDO:0056798) is a disease with 5 GWAS associations across 9 studies and 1 clinical trial. A subtype of large intestine disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 5
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	disorder of appendix
Mondo ID	MONDO:0056798
EFO	EFO:0009542
DOID	DOID:60000
ICD-10-CM	K35-K38
SNOMED CT	18526009
UMLS	C0267613
MedGen	540821
Anatomy (UBERON)	UBERON:0001154
Is cancer (heuristic)	no

Also known as: appendiceal disease · disease of appendix · disease of vermiform appendix · disease or disorder of vermiform appendix · disorder of appendix · disorder of vermiform appendix · vermiform appendix disease · vermiform appendix disease or disorder

Data availability: 5 GWAS associations (9 studies).

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › intestinal disorder › large intestine disorder › disorder of appendix

Related subtypes (10): anal canal cancer, rectal disorder, colonic disorder, colorectal neoplasm, Crohn’s colitis, epithelial tumor of anal canal, shigellosis, polyp of large intestine, benign neoplasm of large intestine, colorectal Kaposi sarcoma

Subtypes (3): appendiceal neoplasm, appendicitis, appendix hyperplastic polyp

Genetics & variants

GWAS landscape

5 GWAS associations across 9 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs6533531	2e-21	LINC01438 - MIR297	G	0.2
rs143187016	2e-12	MND1 - TMEM131L	A	2.84
rs1204911573	5e-12	FFAR2 - KRTDAP	C	2.08
rs567323189	1e-07	LINC01320	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473795	UK Biobank Whole-Genome Sequencing Consortium	2025	12,022	446,418	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90476056	Verma A	2024	3,895	446,045	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436326	Zhou W	2018	3,409	405,552	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651833	Liu TY	2025	1,957	234,983	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90478372	Verma A	2024	887	120,692	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480310	Verma A	2024	887	120,692	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478371	Verma A	2024	710	58,971	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473799	UK Biobank Whole-Genome Sequencing Consortium	2025	623	457,817	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90044143	Jiang L	2021	130	456,218	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	0
Tier 3: regulatory	1
Tier 4: intronic/intergenic	3

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	2
unknown	1

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	1
TF_binding_site_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs6533531	4	110810809	G>C,T	0.49	intergenic_variant	LINC01438 - MIR297	2e-21	Tier 4: intronic/intergenic
rs143187016	4	153439349	A>G	0	TF_binding_site_variant	MND1 - TMEM131L	2e-12	Tier 3: regulatory
rs1204911573	19	35468426	C>A,T	0	intron_variant	FFAR2 - KRTDAP	5e-12	Tier 4: intronic/intergenic
rs567323189	2	34295523	A>AAAAC		intron_variant	LINC01320	1e-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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01795560	Not specified	UNKNOWN	Follow up by US Following Hospitalization With Periappendicular Abscess Refusing to be Operated on Within a Few Weeks.