Trait: Cerebral degeneration

Trait Information
Identifier HP_0007313
Trait category
Neurological disorder
Synonym Neuroaxonal degeneration in the brain

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)
PGS018981
(TPMI_331_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other cerebral degenerations Cerebral degeneration 9,219
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018981/ScoringFiles/PGS018981.txt.gz
PGS018982
(TPMI_331_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other cerebral degenerations Cerebral degeneration 256,810
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018982/ScoringFiles/PGS018982.txt.gz
PGS018983
(TPMI_331_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other cerebral degenerations Cerebral degeneration 15,782
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018983/ScoringFiles/PGS018983.txt.gz
PGS018984
(TPMI_331_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other cerebral degenerations Cerebral degeneration 983,821
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018984/ScoringFiles/PGS018984.txt.gz
PGS018985
(TPMI_331_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other cerebral degenerations Cerebral degeneration 796,395
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018985/ScoringFiles/PGS018985.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
PPM037163 PGS018981
(TPMI_331_Lassosum2)
 PSS012884|
East Asian Ancestry|
18,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other cerebral degenerations — AUROC: 0.64331 R²: 0.00867 sex, age, array, PCs 1-10 —
PPM037164 PGS018982
(TPMI_331_LDpred2)
 PSS012883|
East Asian Ancestry|
18,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other cerebral degenerations — AUROC: 0.63932 R²: 0.00853 sex, age, array, PCs 1-10 —
PPM037165 PGS018983
(TPMI_331_MegaPRS)
 PSS012885|
East Asian Ancestry|
18,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other cerebral degenerations — AUROC: 0.63851 R²: 0.00807 sex, age, array, PCs 1-10 —
PPM037166 PGS018984
(TPMI_331_PRS-CS)
 PSS012886|
East Asian Ancestry|
18,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other cerebral degenerations — AUROC: 0.63857 R²: 0.00828 sex, age, array, PCs 1-10 —
PPM037167 PGS018985
(TPMI_331_SBayesR)
 PSS012887|
East Asian Ancestry|
18,635 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other cerebral degenerations — AUROC: 0.63941 R²: 0.00872 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
PSS012883 330, 331,E75.0, E75.1, E75.23, E75.25, E75.29, E75.4, F84.2, G13.2, G13.8, G31.2, G31.81, G31.82, G31.85, G31.89, G31.9, G91, G93.7, G94 —
[
  • 282 cases
  • , 18,353 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012884 330, 331,E75.0, E75.1, E75.23, E75.25, E75.29, E75.4, F84.2, G13.2, G13.8, G31.2, G31.81, G31.82, G31.85, G31.89, G31.9, G91, G93.7, G94 —
[
  • 282 cases
  • , 18,353 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012885 330, 331,E75.0, E75.1, E75.23, E75.25, E75.29, E75.4, F84.2, G13.2, G13.8, G31.2, G31.81, G31.82, G31.85, G31.89, G31.9, G91, G93.7, G94 —
[
  • 282 cases
  • , 18,353 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012886 330, 331,E75.0, E75.1, E75.23, E75.25, E75.29, E75.4, F84.2, G13.2, G13.8, G31.2, G31.81, G31.82, G31.85, G31.89, G31.9, G91, G93.7, G94 —
[
  • 282 cases
  • , 18,353 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012887 330, 331,E75.0, E75.1, E75.23, E75.25, E75.29, E75.4, F84.2, G13.2, G13.8, G31.2, G31.81, G31.82, G31.85, G31.89, G31.9, G91, G93.7, G94 —
[
  • 282 cases
  • , 18,353 controls
]
,
45.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —