Trait: corneal dystrophy

Trait Information
Identifier MONDO_0018102
Description The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. [Orphanet: 34533]
Trait category
Other disease
Synonyms 2 synonyms
  • corneal dystrophy
  • corneal dystrophy (disease)
Mapped terms 12 mapped terms
  • DOID:2566
  • HP:0001131
  • ICD9:371.5
  • ICD9:371.50
  • MEDGEN:3619
  • MESH:D003317
  • MedDRA:10011005
  • NCIT:C34513
  • Orphanet:34533
  • SCTID:5587004
  • UMLS:C0010036
  • icd11.foundation:1291475891

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)
PGS001835
(portability-PLR_364.5)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Corneal dystrophy corneal dystrophy 38
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001835/ScoringFiles/PGS001835.txt.gz
PGS002042
(portability-ldpred2_364.5)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Corneal dystrophy corneal dystrophy 59,944
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002042/ScoringFiles/PGS002042.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
PPM009572 PGS001835
(portability-PLR_364.5)
 PSS009305|
European Ancestry|
19,321 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0384 [0.0243, 0.0525] sex, age, birth date, deprivation index, 16 PCs —
PPM009573 PGS001835
(portability-PLR_364.5)
 PSS009079|
European Ancestry|
4,029 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0753 [0.0445, 0.106] sex, age, birth date, deprivation index, 16 PCs —
PPM009574 PGS001835
(portability-PLR_364.5)
 PSS008633|
European Ancestry|
6,462 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0488 [0.0245, 0.0732] sex, age, birth date, deprivation index, 16 PCs —
PPM009575 PGS001835
(portability-PLR_364.5)
 PSS008407|
Greater Middle Eastern Ancestry|
1,162 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0128 [-0.0452, 0.0708] sex, age, birth date, deprivation index, 16 PCs —
PPM009577 PGS001835
(portability-PLR_364.5)
 PSS008857|
African Ancestry|
3,718 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): -0.0168 [-0.049, 0.0155] sex, age, birth date, deprivation index, 16 PCs —
PPM009576 PGS001835
(portability-PLR_364.5)
 PSS008187|
South Asian Ancestry|
6,052 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): -0.011 [-0.0362, 0.0143] sex, age, birth date, deprivation index, 16 PCs —
PPM011202 PGS002042
(portability-ldpred2_364.5)
 PSS009305|
European Ancestry|
19,321 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0471 [0.033, 0.0611] sex, age, birth date, deprivation index, 16 PCs —
PPM011203 PGS002042
(portability-ldpred2_364.5)
 PSS009079|
European Ancestry|
4,029 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0812 [0.0504, 0.1119] sex, age, birth date, deprivation index, 16 PCs —
PPM011204 PGS002042
(portability-ldpred2_364.5)
 PSS008633|
European Ancestry|
6,462 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0519 [0.0275, 0.0762] sex, age, birth date, deprivation index, 16 PCs —
PPM011205 PGS002042
(portability-ldpred2_364.5)
 PSS008407|
Greater Middle Eastern Ancestry|
1,162 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): 0.0275 [-0.0306, 0.0853] sex, age, birth date, deprivation index, 16 PCs —
PPM011206 PGS002042
(portability-ldpred2_364.5)
 PSS008187|
South Asian Ancestry|
6,052 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): -0.0133 [-0.0385, 0.0119] sex, age, birth date, deprivation index, 16 PCs —
PPM011207 PGS002042
(portability-ldpred2_364.5)
 PSS008857|
African Ancestry|
3,718 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Corneal dystrophy — — Partial Correlation (partial-r): -0.0084 [-0.0406, 0.0238] sex, age, birth date, deprivation index, 16 PCs —

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
PSS008407 — — 1,162 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009079 — — 4,029 individuals — European Poland (NE Europe) UKB —
PSS008633 — — 6,462 individuals — European Italy (South Europe) UKB —
PSS009305 — — 19,321 individuals — European UK (+ Ireland) UKB —
PSS008857 — — 3,718 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008187 — — 6,052 individuals — South Asian India (South Asia) UKB —