Trait: neuromuscular disease

Trait Information
Identifier MONDO_0019056
Description Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions [Wikipedia: Neuromuscular_disease]
Trait category
Other trait
Synonyms 2 synonyms
  • nerve and muscle disorder
  • neuromuscular disease
Child trait(s) 4 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 "neuromuscular disease" 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)
PGS004453
(disease.G56.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 G56 (Mononeuropathies of upper limb) mononeuropathy 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004453/ScoringFiles/PGS004453.txt.gz
PGS004523
(meta.G56.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 G56 (Mononeuropathies of upper limb) mononeuropathy 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004523/ScoringFiles/PGS004523.txt.gz
PGS018734
(TPMI_250.6_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Polyneuropathy in diabetes diabetic neuropathy 669
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018734/ScoringFiles/PGS018734.txt.gz
PGS018735
(TPMI_250.6_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Polyneuropathy in diabetes diabetic neuropathy 939,815
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018735/ScoringFiles/PGS018735.txt.gz
PGS018736
(TPMI_250.6_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Polyneuropathy in diabetes diabetic neuropathy 54,980
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018736/ScoringFiles/PGS018736.txt.gz
PGS018737
(TPMI_250.6_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Polyneuropathy in diabetes diabetic neuropathy 983,767
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018737/ScoringFiles/PGS018737.txt.gz
PGS018738
(TPMI_250.6_PRSmix+)
 PGP000835 |
Chen HH et al. Nature (2025)
 Polyneuropathy in diabetes diabetic neuropathy 1,071,477
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018738/ScoringFiles/PGS018738.txt.gz
PGS018739
(TPMI_250.6_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Polyneuropathy in diabetes diabetic neuropathy 996,392
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018739/ScoringFiles/PGS018739.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

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
PPM020568 PGS004453
(disease.G56.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: G56 (Mononeuropathies of upper limb) OR: 1.2757 — — — —
PPM020638 PGS004523
(meta.G56.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: G56 (Mononeuropathies of upper limb) OR: 1.41928 — — — —
PPM036916 PGS018734
(TPMI_250.6_Lassosum2)
 PSS012666|
East Asian Ancestry|
14,427 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Polyneuropathy in diabetes — AUROC: 0.64672 R²: 0.02095 sex, age, array, PCs 1-10 —
PPM036917 PGS018735
(TPMI_250.6_LDpred2)
 PSS012665|
East Asian Ancestry|
14,427 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Polyneuropathy in diabetes — AUROC: 0.66143 R²: 0.02491 sex, age, array, PCs 1-10 —
PPM036918 PGS018736
(TPMI_250.6_MegaPRS)
 PSS012667|
East Asian Ancestry|
14,427 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Polyneuropathy in diabetes — AUROC: 0.63648 R²: 0.017 sex, age, array, PCs 1-10 —
PPM036919 PGS018737
(TPMI_250.6_PRS-CS)
 PSS012668|
East Asian Ancestry|
14,427 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Polyneuropathy in diabetes — AUROC: 0.6604 R²: 0.02481 sex, age, array, PCs 1-10 —
PPM036920 PGS018738
(TPMI_250.6_PRSmix+)
 PSS012669|
East Asian Ancestry|
14,427 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Polyneuropathy in diabetes — AUROC: 0.72686 R²: 0.05052 sex, age, array, PCs 1-10 —
PPM036921 PGS018739
(TPMI_250.6_SBayesR)
 PSS012670|
East Asian Ancestry|
14,427 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Polyneuropathy in diabetes — AUROC: 0.65242 R²: 0.02202 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 R²: 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 R²: 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 R²: 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 R²: 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 R²: 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 R²: 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 R²: 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 R²: 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 R²: 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 R²: 0.01243 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
PSS012669 357.2,E08.42, E09.42, E10.42 —
[
  • 421 cases
  • , 14,006 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012670 357.2,E08.42, E09.42, E10.42 —
[
  • 421 cases
  • , 14,006 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012984 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 —
PSS012987 386.0,H81.0, H81.31, H81.39 —
[
  • 398 cases
  • , 17,181 controls
]
,
47.0 % 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 —
PSS012986 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 —
PSS011364 — — 56,192 individuals — European — UKB —
PSS012665 357.2,E08.42, E09.42, E10.42 —
[
  • 421 cases
  • , 14,006 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012666 357.2,E08.42, E09.42, E10.42 —
[
  • 421 cases
  • , 14,006 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012667 357.2,E08.42, E09.42, E10.42 —
[
  • 421 cases
  • , 14,006 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012668 357.2,E08.42, E09.42, E10.42 —
[
  • 421 cases
  • , 14,006 controls
]
,
42.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —