Trait: disorder of ear

Trait Information
Identifier MONDO_0021205
Description A disease that involves the ear. [MONDO: patterns/location]
Trait category
Other trait
Synonyms 7 synonyms
  • Ear disease
  • Ear disorder
  • disease of ear
  • disease or disorder of ear
  • disorder of ear
  • ear disease
  • ear disease or disorder
Child trait(s) 5 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows PGS for child terms of "disorder of ear" in the EFO hierarchy.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
Scoring File (FTP Link)
PGS001255
(GBE_HC914)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Otosclerosis (time-to-event) otosclerosis 213
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001255/ScoringFiles/PGS001255.txt.gz
PGS002046
(portability-ldpred2_383)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Otosclerosis otosclerosis 570,308
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002046/ScoringFiles/PGS002046.txt.gz
PGS019076
(TPMI_381.11_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Suppurative and unspecified otitis media otitis media 46,921
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019076/ScoringFiles/PGS019076.txt.gz
PGS019077
(TPMI_381.11_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Suppurative and unspecified otitis media otitis media 939,893
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019077/ScoringFiles/PGS019077.txt.gz
PGS019078
(TPMI_381.11_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Suppurative and unspecified otitis media otitis media 486,781
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019078/ScoringFiles/PGS019078.txt.gz
PGS019079
(TPMI_381.11_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Suppurative and unspecified otitis media otitis media 983,826
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019079/ScoringFiles/PGS019079.txt.gz
PGS019080
(TPMI_381.11_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Suppurative and unspecified otitis media otitis media 999,521
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019080/ScoringFiles/PGS019080.txt.gz
PGS019081
(TPMI_386_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Vertiginous syndromes and other disorders of vestibular system vestibular disorder 125,242
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019081/ScoringFiles/PGS019081.txt.gz
PGS019082
(TPMI_386_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Vertiginous syndromes and other disorders of vestibular system vestibular disorder 939,898
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019082/ScoringFiles/PGS019082.txt.gz
PGS019083
(TPMI_386_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Vertiginous syndromes and other disorders of vestibular system vestibular disorder 22,265
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019083/ScoringFiles/PGS019083.txt.gz
PGS019084
(TPMI_386_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Vertiginous syndromes and other disorders of vestibular system vestibular disorder 983,829
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019084/ScoringFiles/PGS019084.txt.gz
PGS019085
(TPMI_386_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Vertiginous syndromes and other disorders of vestibular system vestibular disorder 914,097
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019085/ScoringFiles/PGS019085.txt.gz
PGS019086
(TPMI_386.1_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Menieres disease Meniere disease 802,789
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019086/ScoringFiles/PGS019086.txt.gz
PGS019087
(TPMI_386.1_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Menieres disease Meniere disease 939,888
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019087/ScoringFiles/PGS019087.txt.gz
PGS019088
(TPMI_386.1_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Menieres disease Meniere disease 23,220
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019088/ScoringFiles/PGS019088.txt.gz
PGS019089
(TPMI_386.1_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Menieres disease Meniere disease 983,823
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019089/ScoringFiles/PGS019089.txt.gz
PGS019090
(TPMI_386.1_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Menieres disease Meniere disease 987,552
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019090/ScoringFiles/PGS019090.txt.gz
PGS019096
(TPMI_386.3_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Labyrinthitis labyrinthitis 245
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019096/ScoringFiles/PGS019096.txt.gz
PGS019097
(TPMI_386.3_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Labyrinthitis labyrinthitis 939,831
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019097/ScoringFiles/PGS019097.txt.gz
PGS019098
(TPMI_386.3_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Labyrinthitis labyrinthitis 14,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019098/ScoringFiles/PGS019098.txt.gz
PGS019099
(TPMI_386.3_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Labyrinthitis labyrinthitis 983,780
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019099/ScoringFiles/PGS019099.txt.gz
PGS019100
(TPMI_386.3_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Labyrinthitis labyrinthitis 957,643
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019100/ScoringFiles/PGS019100.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM008781 PGS001255
(GBE_HC914)
PSS004702|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE otosclerosis AUROC: 0.91156 [0.77281, 1.0] : 0.29139
Incremental AUROC (full-covars): 0.03981
PGS R2 (no covariates): 0.06779
PGS AUROC (no covariates): 0.7376 [0.46621, 1.0]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008782 PGS001255
(GBE_HC914)
PSS004703|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE otosclerosis AUROC: 0.66807 [0.58985, 0.74629] : 0.03365
Incremental AUROC (full-covars): 0.05467
PGS R2 (no covariates): 0.01522
PGS AUROC (no covariates): 0.62631 [0.54794, 0.70468]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008783 PGS001255
(GBE_HC914)
PSS004704|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE otosclerosis AUROC: 0.71231 [0.61511, 0.80951] : 0.04349
Incremental AUROC (full-covars): 0.03275
PGS R2 (no covariates): 0.00824
PGS AUROC (no covariates): 0.59763 [0.48884, 0.70642]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008784 PGS001255
(GBE_HC914)
PSS004705|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE otosclerosis AUROC: 0.6532 [0.60975, 0.69665] : 0.02085
Incremental AUROC (full-covars): 0.05946
PGS R2 (no covariates): 0.01341
PGS AUROC (no covariates): 0.6319 [0.58724, 0.67656]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM011232 PGS002046
(portability-ldpred2_383)
PSS009309|
European Ancestry|
19,770 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Otosclerosis Partial Correlation (partial-r): 0.0182 [0.0043, 0.0321] sex, age, birth date, deprivation index, 16 PCs
PPM011233 PGS002046
(portability-ldpred2_383)
PSS009083|
European Ancestry|
4,097 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Otosclerosis Partial Correlation (partial-r): 0.0328 [0.0021, 0.0634] sex, age, birth date, deprivation index, 16 PCs
PPM011234 PGS002046
(portability-ldpred2_383)
PSS008637|
European Ancestry|
6,611 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Otosclerosis Partial Correlation (partial-r): -0.0025 [-0.0266, 0.0217] sex, age, birth date, deprivation index, 16 PCs
PPM011235 PGS002046
(portability-ldpred2_383)
PSS008411|
Greater Middle Eastern Ancestry|
1,182 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Otosclerosis Partial Correlation (partial-r): 0.0315 [-0.026, 0.0889] sex, age, birth date, deprivation index, 16 PCs
PPM011236 PGS002046
(portability-ldpred2_383)
PSS008191|
South Asian Ancestry|
6,238 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Otosclerosis Partial Correlation (partial-r): 0.0251 sex, age, birth date, deprivation index, 16 PCs
PPM011237 PGS002046
(portability-ldpred2_383)
PSS007756|
African Ancestry|
2,469 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Otosclerosis Partial Correlation (partial-r): 0.0104 [-0.0293, 0.0499] sex, age, birth date, deprivation index, 16 PCs
PPM037258 PGS019076
(TPMI_381.11_Lassosum2)
PSS012979|
East Asian Ancestry|
19,521 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Suppurative and unspecified otitis media AUROC: 0.63418 : 0.01229 sex, age, array, PCs 1-10
PPM037259 PGS019077
(TPMI_381.11_LDpred2)
PSS012978|
East Asian Ancestry|
19,521 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Suppurative and unspecified otitis media AUROC: 0.63992 : 0.01294 sex, age, array, PCs 1-10
PPM037260 PGS019078
(TPMI_381.11_MegaPRS)
PSS012980|
East Asian Ancestry|
19,521 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Suppurative and unspecified otitis media AUROC: 0.63614 : 0.01221 sex, age, array, PCs 1-10
PPM037261 PGS019079
(TPMI_381.11_PRS-CS)
PSS012981|
East Asian Ancestry|
19,521 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Suppurative and unspecified otitis media AUROC: 0.63258 : 0.01178 sex, age, array, PCs 1-10
PPM037262 PGS019080
(TPMI_381.11_SBayesR)
PSS012982|
East Asian Ancestry|
19,521 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Suppurative and unspecified otitis media AUROC: 0.63187 : 0.0115 sex, age, array, PCs 1-10
PPM037263 PGS019081
(TPMI_386_Lassosum2)
PSS013009|
East Asian Ancestry|
19,232 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Vertiginous syndromes and other disorders of vestibular system AUROC: 0.59319 : 0.03898 sex, age, array, PCs 1-10
PPM037264 PGS019082
(TPMI_386_LDpred2)
PSS013008|
East Asian Ancestry|
19,232 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Vertiginous syndromes and other disorders of vestibular system AUROC: 0.59425 : 0.04012 sex, age, array, PCs 1-10
PPM037265 PGS019083
(TPMI_386_MegaPRS)
PSS013010|
East Asian Ancestry|
19,232 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Vertiginous syndromes and other disorders of vestibular system AUROC: 0.59217 : 0.03816 sex, age, array, PCs 1-10
PPM037266 PGS019084
(TPMI_386_PRS-CS)
PSS013011|
East Asian Ancestry|
19,232 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Vertiginous syndromes and other disorders of vestibular system AUROC: 0.5934 : 0.0392 sex, age, array, PCs 1-10
PPM037267 PGS019085
(TPMI_386_SBayesR)
PSS013012|
East Asian Ancestry|
19,232 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Vertiginous syndromes and other disorders of vestibular system AUROC: 0.59204 : 0.03809 sex, age, array, PCs 1-10
PPM037268 PGS019086
(TPMI_386.1_Lassosum2)
PSS012984|
East Asian Ancestry|
17,579 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Menieres disease AUROC: 0.61707 : 0.01248 sex, age, array, PCs 1-10
PPM037269 PGS019087
(TPMI_386.1_LDpred2)
PSS012983|
East Asian Ancestry|
17,579 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Menieres disease AUROC: 0.61731 : 0.01262 sex, age, array, PCs 1-10
PPM037270 PGS019088
(TPMI_386.1_MegaPRS)
PSS012985|
East Asian Ancestry|
17,579 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Menieres disease AUROC: 0.61749 : 0.01255 sex, age, array, PCs 1-10
PPM037271 PGS019089
(TPMI_386.1_PRS-CS)
PSS012986|
East Asian Ancestry|
17,579 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Menieres disease AUROC: 0.61682 : 0.01254 sex, age, array, PCs 1-10
PPM037272 PGS019090
(TPMI_386.1_SBayesR)
PSS012987|
East Asian Ancestry|
17,579 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Menieres disease AUROC: 0.61747 : 0.01243 sex, age, array, PCs 1-10
PPM037278 PGS019096
(TPMI_386.3_Lassosum2)
PSS012999|
East Asian Ancestry|
17,995 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Labyrinthitis AUROC: 0.57817 : 0.00841 sex, age, array, PCs 1-10
PPM037279 PGS019097
(TPMI_386.3_LDpred2)
PSS012998|
East Asian Ancestry|
17,995 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Labyrinthitis AUROC: 0.58246 : 0.00937 sex, age, array, PCs 1-10
PPM037280 PGS019098
(TPMI_386.3_MegaPRS)
PSS013000|
East Asian Ancestry|
17,995 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Labyrinthitis AUROC: 0.58134 : 0.0089 sex, age, array, PCs 1-10
PPM037281 PGS019099
(TPMI_386.3_PRS-CS)
PSS013001|
East Asian Ancestry|
17,995 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Labyrinthitis AUROC: 0.58388 : 0.00948 sex, age, array, PCs 1-10
PPM037282 PGS019100
(TPMI_386.3_SBayesR)
PSS013002|
East Asian Ancestry|
17,995 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Labyrinthitis AUROC: 0.57912 : 0.0088 sex, age, array, PCs 1-10

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS007756 2,469 individuals African American or Afro-Caribbean Carribean UKB
PSS008411 1,182 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009309 19,770 individuals European UK (+ Ireland) UKB
PSS004702
[
  • 4 cases
  • , 6,493 controls
]
African unspecified UKB
PSS004703
[
  • 53 cases
  • , 24,852 controls
]
European non-white British ancestry UKB
PSS004704
[
  • 20 cases
  • , 7,811 controls
]
South Asian UKB
PSS004705
[
  • 156 cases
  • , 67,269 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS012978 382,H66, H67
[
  • 175 cases
  • , 19,346 controls
]
,
46.15 % Male samples
East Asian
(Han Chinese)
TPMI
PSS012979 382,H66, H67
[
  • 175 cases
  • , 19,346 controls
]
,
46.15 % Male samples
East Asian
(Han Chinese)
TPMI
PSS009083 4,097 individuals European Poland (NE Europe) UKB
PSS012980 382,H66, H67
[
  • 175 cases
  • , 19,346 controls
]
,
46.15 % Male samples
East Asian
(Han Chinese)
TPMI
PSS012981 382,H66, H67
[
  • 175 cases
  • , 19,346 controls
]
,
46.15 % Male samples
East Asian
(Han Chinese)
TPMI
PSS012982 382,H66, H67
[
  • 175 cases
  • , 19,346 controls
]
,
46.15 % Male samples
East Asian
(Han Chinese)
TPMI
PSS008191 6,238 individuals South Asian India (South Asia) UKB
PSS012984 386.0,H81.0, H81.31, H81.39
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
East Asian
(Han Chinese)
TPMI
PSS012983 386.0,H81.0, H81.31, H81.39
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
East Asian
(Han Chinese)
TPMI
PSS012985 386.0,H81.0, H81.31, H81.39
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
East Asian
(Han Chinese)
TPMI
PSS012986 386.0,H81.0, H81.31, H81.39
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
East Asian
(Han Chinese)
TPMI
PSS012987 386.0,H81.0, H81.31, H81.39
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % Male samples
East Asian
(Han Chinese)
TPMI
PSS012998 386.3, 386.4, 386.5, 386.8,H81, H82, H83.0, H83.1, H83.2
[
  • 814 cases
  • , 17,181 controls
]
,
46.79 % Male samples
East Asian
(Han Chinese)
TPMI
PSS012999 386.3, 386.4, 386.5, 386.8,H81, H82, H83.0, H83.1, H83.2
[
  • 814 cases
  • , 17,181 controls
]
,
46.79 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013000 386.3, 386.4, 386.5, 386.8,H81, H82, H83.0, H83.1, H83.2
[
  • 814 cases
  • , 17,181 controls
]
,
46.79 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013001 386.3, 386.4, 386.5, 386.8,H81, H82, H83.0, H83.1, H83.2
[
  • 814 cases
  • , 17,181 controls
]
,
46.79 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013002 386.3, 386.4, 386.5, 386.8,H81, H82, H83.0, H83.1, H83.2
[
  • 814 cases
  • , 17,181 controls
]
,
46.79 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013008 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013009 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013010 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013011 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013012 386, 780.4,H81, H82, H83.0, H83.1, H83.2, H83.9, R42
[
  • 2,051 cases
  • , 17,181 controls
]
,
46.3 % Male samples
East Asian
(Han Chinese)
TPMI
PSS008637 6,611 individuals European Italy (South Europe) UKB