Trait: multiple sclerosis

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003885
Description A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. [NCIT: P378]
Trait category
Immune system disorder
Neurological disorder
Synonyms 8 synonyms
  • Disseminated Sclerosis
  • MS
  • MS (Multiple Sclerosis)
  • Multiple Sclerosis, Acute Fulminating
  • Sclerosis, Disseminated
  • Sclerosis, Multiple
  • multiple sclerosis
Mapped term(s) 16 mapped terms
  • COHD:374919
  • DOID:2377
  • ICD10:G35
  • ICD9:340
  • MESH:D009103
  • MONDO:0005301
  • MeSH:D009103
  • MedDRA:10028245
  • NCIT:C3243
  • NCIt:C3243
  • OMIM:126200
  • OMIM:612595
  • OMIM:614810
  • SCTID:24700007
  • SNOMEDCT:24700007
  • UMLS:C0026769

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:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
East Asian
South Asian
Additional Asian Ancestries
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 PGS Scoring File (FTP Link)
PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
Multiple sclerosis multiple sclerosis 127

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM002137 PGS000809
European Ancestry|
725 individuals
PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
Reported Trait: Multiple sclerosis β: 0.6 AUROC: 0.705 (0.029) : 0.07 Age, sex, PCs(1-2)
PPM002138 PGS000809
European Ancestry|
656 individuals
PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
Reported Trait: Multiple sclerosis β: 0.59 AUROC: 0.762 (0.055) : 0.075 Age, sex, PCs(1-2)
PPM002139 PGS000809
European Ancestry|
8,370 individuals
PGP000194 |
Barnes CLK et al. Eur J Hum Genet (2021)
Reported Trait: Multiple Sclerosis β: 0.63 AUROC: 0.765 (0.042) : 0.069 Age, sex, PCs(1-2)

Evaluated Samples

PGS Sample Set ID
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
PSS001049 Cases are individuals with multiple sclerosis.
  • 29 cases
  • , 8,341 controls
European Mainland Scotland GS:SFHS
PSS001050 Cases are individuals with multiple sclerosis.
  • 80 cases
  • , 645 controls
European Orkney ORCADES
PSS001051 Cases are individuals with multiple sclerosis.
  • 14 cases
  • , 642 controls
European Shetlands VIKING