Trait: temporomandibular joint disorder

Trait Information
Identifier MONDO_0005473
Description Any condition affecting the anatomic and functional characteristics of the temporomandibular joint. [NCIT: P378]
Trait category
Other trait
Synonym TMD

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
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)
PGS019320
(TPMI_526.4_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Temporomandibular joint disorders temporomandibular joint disorder 482,939
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019320/ScoringFiles/PGS019320.txt.gz
PGS019321
(TPMI_526.4_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Temporomandibular joint disorders temporomandibular joint disorder 939,803
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019321/ScoringFiles/PGS019321.txt.gz
PGS019322
(TPMI_526.4_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Temporomandibular joint disorders temporomandibular joint disorder 19,676
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019322/ScoringFiles/PGS019322.txt.gz
PGS019323
(TPMI_526.4_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Temporomandibular joint disorders temporomandibular joint disorder 983,748
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019323/ScoringFiles/PGS019323.txt.gz
PGS019324
(TPMI_526.4_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Temporomandibular joint disorders temporomandibular joint disorder 1,011,614
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019324/ScoringFiles/PGS019324.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
PPM037502 PGS019320
(TPMI_526.4_Lassosum2)
 PSS013218|
East Asian Ancestry|
16,784 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Temporomandibular joint disorders — AUROC: 0.65664 R²: 0.0097 sex, age, array, PCs 1-10 —
PPM037503 PGS019321
(TPMI_526.4_LDpred2)
 PSS013217|
East Asian Ancestry|
16,784 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Temporomandibular joint disorders — AUROC: 0.66218 R²: 0.01027 sex, age, array, PCs 1-10 —
PPM037504 PGS019322
(TPMI_526.4_MegaPRS)
 PSS013219|
East Asian Ancestry|
16,784 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Temporomandibular joint disorders — AUROC: 0.65431 R²: 0.00965 sex, age, array, PCs 1-10 —
PPM037505 PGS019323
(TPMI_526.4_PRS-CS)
 PSS013220|
East Asian Ancestry|
16,784 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Temporomandibular joint disorders — AUROC: 0.66017 R²: 0.00993 sex, age, array, PCs 1-10 —
PPM037506 PGS019324
(TPMI_526.4_SBayesR)
 PSS013221|
East Asian Ancestry|
16,784 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Temporomandibular joint disorders — AUROC: 0.65615 R²: 0.00968 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
PSS013217 524.6,M26.6 —
[
  • 162 cases
  • , 16,622 controls
]
,
45.45 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013218 524.6,M26.6 —
[
  • 162 cases
  • , 16,622 controls
]
,
45.45 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013219 524.6,M26.6 —
[
  • 162 cases
  • , 16,622 controls
]
,
45.45 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013220 524.6,M26.6 —
[
  • 162 cases
  • , 16,622 controls
]
,
45.45 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013221 524.6,M26.6 —
[
  • 162 cases
  • , 16,622 controls
]
,
45.45 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —