Trait: peripheral neuropathy

Trait Information
Identifier MONDO_0005244
Description A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. [NCIT: C119734]
Trait category
Other trait
Synonyms 3 synonyms
  • neuropathy
  • peripheral nerve disorder
  • peripheral neuropathy
Child trait(s) 2 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 "peripheral neuropathy" 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

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 —

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 —
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 —