Trait: soft tissue disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009470
Description A disease affecting tissues that connect, support, or surround other structures and organs of the body, not being hard tissue such as bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes (which are connective tissue), and muscles, nerves and blood vessels (which are not connective tissue).
Trait category
Other trait
Mapped terms 5 mapped terms
  • ICD10:M70
  • ICD10:M73
  • ICD10:M75
  • ICD10:M79
  • Wikipedia:Soft_tissue

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)
PGS004488
(disease.M75.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M75 (Shoulder lesions) soft tissue disease 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004488/ScoringFiles/PGS004488.txt.gz
PGS004489
(disease.M79.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M79 (Other soft tissue disorders, not elsewhere classified) soft tissue disease 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004489/ScoringFiles/PGS004489.txt.gz
PGS004558
(meta.M75.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M75 (Shoulder lesions) soft tissue disease 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004558/ScoringFiles/PGS004558.txt.gz
PGS004559
(meta.M79.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M79 (Other soft tissue disorders, not elsewhere classified) soft tissue disease 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004559/ScoringFiles/PGS004559.txt.gz
PGS019707
(TPMI_728_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of muscle ligament and fascia soft tissue disease 461,473
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019707/ScoringFiles/PGS019707.txt.gz
PGS019708
(TPMI_728_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of muscle ligament and fascia soft tissue disease 939,859
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019708/ScoringFiles/PGS019708.txt.gz
PGS019709
(TPMI_728_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of muscle ligament and fascia soft tissue disease 27,311
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019709/ScoringFiles/PGS019709.txt.gz
PGS019710
(TPMI_728_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of muscle ligament and fascia soft tissue disease 983,801
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019710/ScoringFiles/PGS019710.txt.gz
PGS019711
(TPMI_728_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Disorders of muscle ligament and fascia soft tissue disease 971,989
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019711/ScoringFiles/PGS019711.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
PPM020603 PGS004488
(disease.M75.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M75 (Shoulder lesions) OR: 1.17782 — — — —
PPM020604 PGS004489
(disease.M79.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M79 (Other soft tissue disorders, not elsewhere classified) OR: 1.15317 — — — —
PPM020673 PGS004558
(meta.M75.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M75 (Shoulder lesions) OR: 1.25489 — — — —
PPM020674 PGS004559
(meta.M79.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M79 (Other soft tissue disorders, not elsewhere classified) OR: 1.23544 — — — —
PPM037889 PGS019707
(TPMI_728_Lassosum2)
 PSS013615|
East Asian Ancestry|
15,317 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of muscle ligament and fascia — AUROC: 0.65372 R²: 0.07463 sex, age, array, PCs 1-10 —
PPM037890 PGS019708
(TPMI_728_LDpred2)
 PSS013614|
East Asian Ancestry|
15,317 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of muscle ligament and fascia — AUROC: 0.65314 R²: 0.07396 sex, age, array, PCs 1-10 —
PPM037891 PGS019709
(TPMI_728_MegaPRS)
 PSS013616|
East Asian Ancestry|
15,317 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of muscle ligament and fascia — AUROC: 0.65369 R²: 0.07449 sex, age, array, PCs 1-10 —
PPM037892 PGS019710
(TPMI_728_PRS-CS)
 PSS013617|
East Asian Ancestry|
15,317 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of muscle ligament and fascia — AUROC: 0.65288 R²: 0.07364 sex, age, array, PCs 1-10 —
PPM037893 PGS019711
(TPMI_728_SBayesR)
 PSS013618|
East Asian Ancestry|
15,317 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Disorders of muscle ligament and fascia — AUROC: 0.65311 R²: 0.07359 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
PSS013614 728, 729.4,M24.2, M35.7, M60.1, M61, M62.0, M62.1, M62.3, M62.8, M72.0, M72.1, M72.2, M72.4, M72.9 —
[
  • 627 cases
  • , 14,690 controls
]
,
47.74 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013615 728, 729.4,M24.2, M35.7, M60.1, M61, M62.0, M62.1, M62.3, M62.8, M72.0, M72.1, M72.2, M72.4, M72.9 —
[
  • 627 cases
  • , 14,690 controls
]
,
47.74 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013616 728, 729.4,M24.2, M35.7, M60.1, M61, M62.0, M62.1, M62.3, M62.8, M72.0, M72.1, M72.2, M72.4, M72.9 —
[
  • 627 cases
  • , 14,690 controls
]
,
47.74 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013617 728, 729.4,M24.2, M35.7, M60.1, M61, M62.0, M62.1, M62.3, M62.8, M72.0, M72.1, M72.2, M72.4, M72.9 —
[
  • 627 cases
  • , 14,690 controls
]
,
47.74 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013618 728, 729.4,M24.2, M35.7, M60.1, M61, M62.0, M62.1, M62.3, M62.8, M72.0, M72.1, M72.2, M72.4, M72.9 —
[
  • 627 cases
  • , 14,690 controls
]
,
47.74 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS011364 — — 56,192 individuals — European — UKB —