Trait: muscular disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0002970
Description
  • A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
  • Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
  • Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle.
Trait category
Other trait
Synonyms 7 synonyms
  • MUSCLE DIS
  • MUSCULAR DIS
  • Muscle Disorder
  • Muscle Disorders
  • Muscular Diseases
  • Myopathic Condition
  • Myopathic Conditions
Child trait(s) Dupuytren Contracture

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 all PGS for "muscular disease" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS001254
(GBE_HC177)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Dupuytren's contracture Dupuytren Contracture 11
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001254/ScoringFiles/PGS001254.txt.gz
PGS001880
(portability-PLR_728.71)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Contracture of palmar fascia [Dupuytren's disease] Dupuytren Contracture 2,443
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001880/ScoringFiles/PGS001880.txt.gz
PGS002092
(portability-ldpred2_728.71)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Contracture of palmar fascia [Dupuytren's disease] Dupuytren Contracture 484,484
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002092/ScoringFiles/PGS002092.txt.gz
PGS019737
(TPMI_772_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Symptoms of the muscles muscular disease 56,926
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019737/ScoringFiles/PGS019737.txt.gz
PGS019738
(TPMI_772_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Symptoms of the muscles muscular disease 939,897
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019738/ScoringFiles/PGS019738.txt.gz
PGS019739
(TPMI_772_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Symptoms of the muscles muscular disease 22,400
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019739/ScoringFiles/PGS019739.txt.gz
PGS019740
(TPMI_772_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Symptoms of the muscles muscular disease 983,830
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019740/ScoringFiles/PGS019740.txt.gz
PGS019741
(TPMI_772_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Symptoms of the muscles muscular disease 981,590
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019741/ScoringFiles/PGS019741.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
PPM008779 PGS001254
(GBE_HC177)
 PSS004332|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Dupuytren's contracture — AUROC: 0.78857 [0.69837, 0.87877] R²: 0.07412
Incremental AUROC (full-covars): 0.03925
PGS R2 (no covariates): 0.02488
PGS AUROC (no covariates): 0.65251 [0.53357, 0.77144]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008780 PGS001254
(GBE_HC177)
 PSS004333|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Dupuytren's contracture — AUROC: 0.74126 [0.69429, 0.78823] R²: 0.05438
Incremental AUROC (full-covars): 0.04471
PGS R2 (no covariates): 0.02466
PGS AUROC (no covariates): 0.66457 [0.60823, 0.72091]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009925 PGS001880
(portability-PLR_728.71)
 PSS009357|
European Ancestry|
18,971 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.0783 [0.0641, 0.0924] sex, age, birth date, deprivation index, 16 PCs —
PPM009926 PGS001880
(portability-PLR_728.71)
 PSS009131|
European Ancestry|
3,900 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.1046 [0.0734, 0.1357] sex, age, birth date, deprivation index, 16 PCs —
PPM009927 PGS001880
(portability-PLR_728.71)
 PSS008685|
European Ancestry|
6,356 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.076 [0.0514, 0.1004] sex, age, birth date, deprivation index, 16 PCs —
PPM009928 PGS001880
(portability-PLR_728.71)
 PSS008459|
Greater Middle Eastern Ancestry|
1,131 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.0428 [-0.016, 0.1014] sex, age, birth date, deprivation index, 16 PCs —
PPM009930 PGS001880
(portability-PLR_728.71)
 PSS007803|
African Ancestry|
2,335 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): -0.0262 [-0.0669, 0.0145] sex, age, birth date, deprivation index, 16 PCs —
PPM009931 PGS001880
(portability-PLR_728.71)
 PSS008907|
African Ancestry|
3,732 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): -0.0009 [-0.0331, 0.0312] sex, age, birth date, deprivation index, 16 PCs —
PPM009929 PGS001880
(portability-PLR_728.71)
 PSS008239|
South Asian Ancestry|
5,940 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.0269 [0.0014, 0.0524] sex, age, birth date, deprivation index, 16 PCs —
PPM011593 PGS002092
(portability-ldpred2_728.71)
 PSS009357|
European Ancestry|
18,971 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.0797 [0.0655, 0.0938] sex, age, birth date, deprivation index, 16 PCs —
PPM011594 PGS002092
(portability-ldpred2_728.71)
 PSS009131|
European Ancestry|
3,900 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.1036 [0.0724, 0.1346] sex, age, birth date, deprivation index, 16 PCs —
PPM011596 PGS002092
(portability-ldpred2_728.71)
 PSS008459|
Greater Middle Eastern Ancestry|
1,131 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.045 [-0.0139, 0.1035] sex, age, birth date, deprivation index, 16 PCs —
PPM011597 PGS002092
(portability-ldpred2_728.71)
 PSS008239|
South Asian Ancestry|
5,940 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.0315 [0.0061, 0.057] sex, age, birth date, deprivation index, 16 PCs —
PPM011598 PGS002092
(portability-ldpred2_728.71)
 PSS007803|
African Ancestry|
2,335 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): -0.0255 [-0.0661, 0.0153] sex, age, birth date, deprivation index, 16 PCs —
PPM011599 PGS002092
(portability-ldpred2_728.71)
 PSS008907|
African Ancestry|
3,732 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.0031 [-0.0291, 0.0353] sex, age, birth date, deprivation index, 16 PCs —
PPM011595 PGS002092
(portability-ldpred2_728.71)
 PSS008685|
European Ancestry|
6,356 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Contracture of palmar fascia [Dupuytren's disease] — — Partial Correlation (partial-r): 0.0817 [0.0572, 0.1061] sex, age, birth date, deprivation index, 16 PCs —
PPM037919 PGS019737
(TPMI_772_Lassosum2)
 PSS013640|
East Asian Ancestry|
19,851 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Symptoms of the muscles — AUROC: 0.63604 R²: 0.01297 sex, age, array, PCs 1-10 —
PPM037920 PGS019738
(TPMI_772_LDpred2)
 PSS013639|
East Asian Ancestry|
19,851 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Symptoms of the muscles — AUROC: 0.63659 R²: 0.01298 sex, age, array, PCs 1-10 —
PPM037921 PGS019739
(TPMI_772_MegaPRS)
 PSS013641|
East Asian Ancestry|
19,851 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Symptoms of the muscles — AUROC: 0.63706 R²: 0.01304 sex, age, array, PCs 1-10 —
PPM037922 PGS019740
(TPMI_772_PRS-CS)
 PSS013642|
East Asian Ancestry|
19,851 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Symptoms of the muscles — AUROC: 0.63607 R²: 0.01296 sex, age, array, PCs 1-10 —
PPM037923 PGS019741
(TPMI_772_SBayesR)
 PSS013643|
East Asian Ancestry|
19,851 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Symptoms of the muscles — AUROC: 0.639 R²: 0.01322 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
PSS009131 — — 3,900 individuals — European Poland (NE Europe) UKB —
PSS008459 — — 1,131 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009357 — — 18,971 individuals — European UK (+ Ireland) UKB —
PSS008685 — — 6,356 individuals — European Italy (South Europe) UKB —
PSS008907 — — 3,732 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008239 — — 5,940 individuals — South Asian India (South Asia) UKB —
PSS013640 728.2, 728.85, 728.87, 728.88, 728.89, 728.9, 781.94,M35.4, M62.2, M62.40, M62.41, M62.42, M62.43, M62.44, M62.45, M62.46, M62.47, M62.48, M62.49, M62.5, M62.81, M62.82, M62.83, M62.89, M63, M72.8, M76.3, R29.810 —
[
  • 246 cases
  • , 19,605 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013639 728.2, 728.85, 728.87, 728.88, 728.89, 728.9, 781.94,M35.4, M62.2, M62.40, M62.41, M62.42, M62.43, M62.44, M62.45, M62.46, M62.47, M62.48, M62.49, M62.5, M62.81, M62.82, M62.83, M62.89, M63, M72.8, M76.3, R29.810 —
[
  • 246 cases
  • , 19,605 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013641 728.2, 728.85, 728.87, 728.88, 728.89, 728.9, 781.94,M35.4, M62.2, M62.40, M62.41, M62.42, M62.43, M62.44, M62.45, M62.46, M62.47, M62.48, M62.49, M62.5, M62.81, M62.82, M62.83, M62.89, M63, M72.8, M76.3, R29.810 —
[
  • 246 cases
  • , 19,605 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004332 — —
[
  • 23 cases
  • , 24,882 controls
]
 — European non-white British ancestry UKB —
PSS004333 — —
[
  • 91 cases
  • , 67,334 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS013642 728.2, 728.85, 728.87, 728.88, 728.89, 728.9, 781.94,M35.4, M62.2, M62.40, M62.41, M62.42, M62.43, M62.44, M62.45, M62.46, M62.47, M62.48, M62.49, M62.5, M62.81, M62.82, M62.83, M62.89, M63, M72.8, M76.3, R29.810 —
[
  • 246 cases
  • , 19,605 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013643 728.2, 728.85, 728.87, 728.88, 728.89, 728.9, 781.94,M35.4, M62.2, M62.40, M62.41, M62.42, M62.43, M62.44, M62.45, M62.46, M62.47, M62.48, M62.49, M62.5, M62.81, M62.82, M62.83, M62.89, M63, M72.8, M76.3, R29.810 —
[
  • 246 cases
  • , 19,605 controls
]
,
46.02 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007803 — — 2,335 individuals — African American or Afro-Caribbean Carribean UKB —