External ear disorder

Summary

External ear disorder (MONDO:0002776) is a disease with 15 GWAS associations across 19 studies and 1 clinical trial. A subtype of auditory system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 15
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	external ear disorder
Mondo ID	MONDO:0002776
EFO	EFO:0009668
DOID	DOID:379
ICD-10-CM	H60-H62
NCIT	C26972
SNOMED CT	49130001
UMLS	C0155388
MedGen	57606
Anatomy (UBERON)	UBERON:0001691
Is cancer (heuristic)	no

Also known as: disease of external ear · disease or disorder of external ear · disorder of external ear · external ear disease · external ear disease or disorder · external ear disorder · preauricular cyst · preauricular cyst (disorder) · preauricular sinus and fistula (disorder) · preauricular sinus or fistula · preauricular sinus or fistula NOS (disorder)

Data availability: 15 GWAS associations (19 studies).

Disease family

This is a subtype of auditory 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 › auditory system disorder › external ear disorder

Related subtypes (10): discharging ear, dislocation of ear ossicle, adhesive otitis media, retrocochlear disease, inner ear disorder, middle ear disorder, auditory system cancer, hearing disorder, inherited auditory system disease, auditory system benign neoplasm

Subtypes (3): otitis externa, cholesteatoma of external ear, external ear neoplasm

Genetics & variants

GWAS landscape

15 GWAS associations across 19 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr20:46811367	4e-14		G	0.07
rs181451104	9e-12	RNU6-1197P - JPH1	C	3.32
rs546906222	2e-11	DEGS2 - YY1-DT	G	1.74
chr11:13095831	2e-11		AT	0.06
rs146094436	4e-11	DLG2	G	2.28
chr11:13089937	8e-11		A	0.05
chr8:9308144	1e-10		C	0.06
chr8:9306966	6e-09		C	0.04
chr10:6052734	1e-08		T	0.07
rs117703902	2e-08	LINC02292	?
chr13:65901537	2e-08		C	0.47
chr13:81736390	2e-08		C	1.78
chr14:65930337	4e-08		CA	1.9
chr12:2769185	4e-08		TATATAA	2.37

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473468	UK Biobank Whole-Genome Sequencing Consortium	2025	43,887	414,553	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667822	UK Biobank Whole-Genome Sequencing Consortium	2025	43,887	414,553	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473473	UK Biobank Whole-Genome Sequencing Consortium	2025	28,540	429,900	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667874	UK Biobank Whole-Genome Sequencing Consortium	2025	28,540	429,900	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90079930	Backman JD	2021	14,555	355,834	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083916	Backman JD	2021	14,555	355,834	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90726867	Kim HI	2026	3,785	40,241	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90477791	Verma A	2024	3,238	438,412	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436028	Zhou W	2018	1,451	407,510	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90473469	UK Biobank Whole-Genome Sequencing Consortium	2025	760	8,853	Whole-genome sequencing of 490,640 UK Biobank participants.

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	13

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	3
unknown	11

Functional consequences

Consequence	Count
unknown	10
intron_variant	3
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr20:46811367							4e-14	Tier 4: intronic/intergenic
rs181451104	8	74205807	C>T	0	intron_variant	RNU6-1197P - JPH1	9e-12	Tier 4: intronic/intergenic
rs546906222	14	100204741	G>A	0.002	regulatory_region_variant	DEGS2 - YY1-DT	2e-11	Tier 3: regulatory
chr11:13095831							2e-11	Tier 4: intronic/intergenic
rs146094436	11	84403638	G>A	0.002	intron_variant	DLG2	4e-11	Tier 4: intronic/intergenic
chr11:13089937							8e-11	Tier 4: intronic/intergenic
chr8:9308144							1e-10	Tier 4: intronic/intergenic
chr8:9306966							6e-09	Tier 4: intronic/intergenic
chr10:6052734							1e-08	Tier 4: intronic/intergenic
rs117703902	14	95327791	C>T		intron_variant	LINC02292	2e-08	Tier 4: intronic/intergenic
chr13:65901537							2e-08	Tier 4: intronic/intergenic
chr13:81736390							2e-08	Tier 4: intronic/intergenic
chr14:65930337							4e-08	Tier 4: intronic/intergenic
chr12:2769185							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
NCT03019380	Not specified	UNKNOWN	A Clinical Trial to Test the Saftey and Success Rate for a Cerrumen Cleaning Device - Wondertip.