Trait: Cognitive impairment

Trait Information
Identifier HP_0100543
Description
  • Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
  • An individual with cognitive impairment may experience difficulties in remembering, learning new things, concentrating, or making decisions.
Trait category
Neurological disorder
Synonyms 6 synonyms
  • Abnormality of cognition
  • Cognitive abnormality
  • Cognitive defects
  • Cognitive deficits
  • Cognitive impairment
  • Intellectual impairment

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)
PGS018931
(TPMI_292.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Mild cognitive impairment Cognitive impairment 37,738
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018931/ScoringFiles/PGS018931.txt.gz
PGS018932
(TPMI_292.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Mild cognitive impairment Cognitive impairment 271,015
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018932/ScoringFiles/PGS018932.txt.gz
PGS018933
(TPMI_292.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Mild cognitive impairment Cognitive impairment 477,076
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018933/ScoringFiles/PGS018933.txt.gz
PGS018934
(TPMI_292.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Mild cognitive impairment Cognitive impairment 983,787
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018934/ScoringFiles/PGS018934.txt.gz
PGS018935
(TPMI_292.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Mild cognitive impairment Cognitive impairment 1,011,196
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018935/ScoringFiles/PGS018935.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
PPM037113 PGS018931
(TPMI_292.2_Lassosum2)
 PSS012829|
East Asian Ancestry|
19,158 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Mild cognitive impairment — AUROC: 0.68254 R²: 0.00577 sex, age, array, PCs 1-10 —
PPM037114 PGS018932
(TPMI_292.2_LDpred2)
 PSS012828|
East Asian Ancestry|
19,158 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Mild cognitive impairment — AUROC: 0.68229 R²: 0.00575 sex, age, array, PCs 1-10 —
PPM037115 PGS018933
(TPMI_292.2_MegaPRS)
 PSS012830|
East Asian Ancestry|
19,158 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Mild cognitive impairment — AUROC: 0.68418 R²: 0.0058 sex, age, array, PCs 1-10 —
PPM037116 PGS018934
(TPMI_292.2_PRS-CS)
 PSS012831|
East Asian Ancestry|
19,158 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Mild cognitive impairment — AUROC: 0.682 R²: 0.00574 sex, age, array, PCs 1-10 —
PPM037117 PGS018935
(TPMI_292.2_SBayesR)
 PSS012832|
East Asian Ancestry|
19,158 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Mild cognitive impairment — AUROC: 0.68058 R²: 0.00579 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
PSS012829 331.83,G31.84 —
[
  • 143 cases
  • , 19,015 controls
]
,
45.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012830 331.83,G31.84 —
[
  • 143 cases
  • , 19,015 controls
]
,
45.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012831 331.83,G31.84 —
[
  • 143 cases
  • , 19,015 controls
]
,
45.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012832 331.83,G31.84 —
[
  • 143 cases
  • , 19,015 controls
]
,
45.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012828 331.83,G31.84 —
[
  • 143 cases
  • , 19,015 controls
]
,
45.95 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —