Trait: keratoconus

Trait Information
Identifier MONDO_0015486
Description A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. [NCIT: P378]
Trait category
Other disease
Synonyms 6 synonyms
  • KC
  • conical cornea
  • isolated keratoconus
  • keratoconus
  • keratoconus (disease)
  • noninflammatory corneal thining
Mapped terms 15 mapped terms
  • DOID:10126
  • GARD:6824
  • HP:0000563
  • ICD9:371.6
  • ICD9:371.60
  • MEDGEN:44015
  • MESH:D007640
  • MedDRA:10023353
  • NCIT:C26806
  • OMIMPS:148300
  • Orphanet:156071
  • Orphanet:2335
  • SCTID:65636009
  • UMLS:C0022578
  • icd11.foundation:945228622

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)
PGS002292
(PRS36_KC)
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Keratoconus keratoconus 36
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002292/ScoringFiles/PGS002292.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
PPM013012 PGS002292
(PRS36_KC)
 PSS009647|
European Ancestry|
142,595 individuals
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Reported Trait: Keratoconus — AUROC: 0.705 — — —
PPM013013 PGS002292
(PRS36_KC)
 PSS009647|
European Ancestry|
142,595 individuals
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Reported Trait: Keratoconus with corneal resistance factor variants — AUROC: 0.756 — — —
PPM013014 PGS002292
(PRS36_KC)
 PSS009647|
European Ancestry|
142,595 individuals
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Reported Trait: Keratoconus with central corneal thickness variants — AUROC: 0.755 — — —

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
PSS009647 Keratoconus cases (ICD10 diagnosis code H186) and healthy controls without severe eye diseases (UKB Field 6148) —
[
  • 102 cases
  • , 142,493 controls
]
 — European — UKB —