Auditory system disorder

Summary

Auditory system disorder (MONDO:0002409) is a disease (an umbrella term covering 11 Mondo subtypes) with 29 GWAS associations across 39 studies. A subtype of disease by body system or component — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 11 Mondo subtypes
• GWAS associations: 29

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	auditory system disorder
Mondo ID	MONDO:0002409
EFO	EFO:1001455
DOID	DOID:2742
ICD-10-CM	H60-H95
SNOMED CT	362966006
UMLS	C5848260
MedGen	1846617
Anatomy (UBERON)	UBERON:0016490
Is cancer (heuristic)	no

Also known as: auditory disease · auditory system disease · auditory system disease or disorder · disease of auditory system · disease or disorder of auditory system · disorder of auditory system

Data availability: 29 GWAS associations (39 studies).

Disease family

An umbrella term covering 11 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › auditory system disorder

Related subtypes (18): disorder of orbital region, integumentary system disorder, musculoskeletal system disorder, urinary system disorder, syndromic disease, breast disorder, connective tissue disorder, digestive system disorder, cardiovascular disorder, reproductive system disorder, immune system disorder, nervous system disorder, respiratory system disorder, endocrine system disorder, hematologic disorder, mouth disorder, disorder of visual system, otorhinolaryngologic disease

Subtypes (11): discharging ear, dislocation of ear ossicle, adhesive otitis media, retrocochlear disease, inner ear disorder, external ear disorder, middle ear disorder, auditory system cancer, hearing disorder, inherited auditory system disease, auditory system benign neoplasm

Genetics & variants

GWAS landscape

29 GWAS associations across 39 studies. Top hits map to 6 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs12481092	7e-26	SLC2A10 - RN7SKP33	C	0.08
rs111684589	7e-25	DCHS2	A	0.3
chr11:13132504	1e-23		T	0.07
rs894135	5e-21	RASSF10 - BMAL1	C	0.06
chr8:9164476	3e-20		G	0.07
rs330068	4e-18	PPP1R3B-DT	A	0.07
rs77693654	1e-12	LINC02098 - ETS1	A	0.07
rs181634841	1e-12	STMN2	G	3.97
rs74306120	8e-12	ELAVL2 - IZUMO3	?
rs528427979	2e-11	VAV3	G	2.81
chr12:23562159	6e-10		A	2.26
chr7:62172568	3e-09		T	2.6
chr14:49791592	5e-09		T	1.65
chr10:9523434	2e-08		T	2.76
chr3:142630974	2e-08		C	2.65
chr19:53502200	2e-08		A	0.61
chr3:128218187	2e-08		C	1.25
chr4:166198437	2e-08		G	0.45
chr10:7149134	2e-08		A	0.47
chr12:70528575	3e-08		A	2.35
chr14:92942822	3e-08		G	2.69
chr10:58792257	3e-08		GA	1.66
rs368115282	4e-08	PKD2L2, PKD2L2-DT	?
chr3:168581652	4e-08		T	1.2
chr7:140518604	4e-08		T	2.38
chr17:14275328	5e-08		T	0.9
rs149681070	1e-07	MTCYBP42 - TOMM7	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475901	Verma A	2024	54,752	350,048	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473475	UK Biobank Whole-Genome Sequencing Consortium	2025	20,181	438,259	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667810	UK Biobank Whole-Genome Sequencing Consortium	2025	20,181	438,259	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473503	UK Biobank Whole-Genome Sequencing Consortium	2025	15,033	443,407	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667929	UK Biobank Whole-Genome Sequencing Consortium	2025	15,033	443,407	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477795	Verma A	2024	10,972	100,925	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480102	Verma A	2024	10,972	100,925	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90726878	Kim HI	2026	5,916	38,110	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90477794	Verma A	2024	5,046	49,917	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481962	Verma A	2024	1,912	445,358	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	1
Tier 4: intronic/intergenic	25

MAF distribution

Bucket	Variants
common (>=0.05)	6
low_freq (0.01-0.05)	0
rare (<0.01)	3
unknown	18

Functional consequences

Consequence	Count
unknown	17
intergenic_variant	4
intron_variant	4
missense_variant	1
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs12481092	20	46858178	C>G,T	0.265	intergenic_variant	SLC2A10 - RN7SKP33	7e-26	Tier 4: intronic/intergenic
rs111684589	4	154236938	A>C,G	0.009	missense_variant	DCHS2	7e-25	Tier 1: coding
chr11:13132504				0.393			1e-23	Tier 4: intronic/intergenic
rs894135	11	13109053	C>A,G	0.397	intron_variant	RASSF10 - BMAL1	5e-21	Tier 4: intronic/intergenic
chr8:9164476				0.352			3e-20	Tier 4: intronic/intergenic
rs330068	8	9304538	A>C,G,T	0.312	intron_variant	PPP1R3B-DT	4e-18	Tier 4: intronic/intergenic
rs77693654	11	128368093	A>C,G	0.118	intergenic_variant	LINC02098 - ETS1	1e-12	Tier 4: intronic/intergenic
rs181634841	8	79618230	G>A	0	intron_variant	STMN2	1e-12	Tier 4: intronic/intergenic
rs74306120	9	24216483	C>T		intergenic_variant	ELAVL2 - IZUMO3	8e-12	Tier 4: intronic/intergenic
rs528427979	1	107790877	G>A	0.001	intron_variant	VAV3	2e-11	Tier 4: intronic/intergenic
chr12:23562159							6e-10	Tier 4: intronic/intergenic
chr7:62172568							3e-09	Tier 4: intronic/intergenic
chr14:49791592							5e-09	Tier 4: intronic/intergenic
chr10:9523434							2e-08	Tier 4: intronic/intergenic
chr3:142630974							2e-08	Tier 4: intronic/intergenic
chr19:53502200							2e-08	Tier 4: intronic/intergenic
chr3:128218187							2e-08	Tier 4: intronic/intergenic
chr4:166198437							2e-08	Tier 4: intronic/intergenic
chr10:7149134							2e-08	Tier 4: intronic/intergenic
chr12:70528575							3e-08	Tier 4: intronic/intergenic
chr14:92942822							3e-08	Tier 4: intronic/intergenic
chr10:58792257							3e-08	Tier 4: intronic/intergenic
rs368115282	5	137889338	G>A		regulatory_region_variant	PKD2L2, PKD2L2-DT	4e-08	Tier 3: regulatory
chr3:168581652							4e-08	Tier 4: intronic/intergenic
chr7:140518604							4e-08	Tier 4: intronic/intergenic
chr17:14275328							5e-08	Tier 4: intronic/intergenic
rs149681070	7	22770867	C>T		intergenic_variant	MTCYBP42 - TOMM7	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: 0.