Trait: ocular cancer

Trait Information
Identifier MONDO_0002236
Description A benign or malignant neoplasm affecting the structures of the eye. [NCIT: P378]
Trait categories
Cancer
Neurological disorder
Synonyms 25 synonyms
  • cancer of eye
  • cancer of eyeball of camera-type eye
  • cancer of the eye
  • eye cancer
  • eye neoplasm
  • eye neoplasm, malignant
  • eyeball of camera-type eye cancer
  • malignant eye neoplasm
  • malignant eye tumor
  • malignant eye tumour
  • malignant eyeball of camera-type eye neoplasm
  • malignant neoplasm of eye
  • malignant neoplasm of eyeball of camera-type eye
  • malignant neoplasm of the eye
  • malignant ocular neoplasm
  • malignant ocular tumor
  • malignant ocular tumour
  • malignant tumor of eye
  • malignant tumor of the eye
  • malignant tumour of eye
  • malignant tumour of the eye
  • neoplasm of eye
  • neoplasm of eye proper
  • ocular tumor
  • ocular tumour
Mapped terms 8 mapped terms
  • DOID:2174
  • ICD9:190.8
  • ICD9:239.89
  • MEDGEN:105418
  • MESH:D005134
  • NCIT:C4767
  • SCTID:371486001
  • UMLS:C0496836

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)
PGS000617
(PRSWEB_PHECODE190_20001-1030_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Ocular cancer ocular cancer 834,009
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000617/ScoringFiles/PGS000617.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
PPM001302 PGS000617
(PRSWEB_PHECODE190_20001-1030_PRS-CS_MGI_20200608)
 PSS000556|
European Ancestry|
672 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of eye OR: 1.339 [1.033, 1.736]
β: 0.292 (0.132)		 AUROC: 0.586 [0.508, 0.658] Nagelkerke's Pseudo-R²: 0.0152
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 4.74 [1.2, 18.7]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE190_20001-1030_PRS-CS_MGI_20200608

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
PSS000556 PheCode:190; ICD9CM:190.0, 190.1, 190.2, 190.3, 190.4, 190.5, 190.6, 190.7, 190.8, 190.9, 234.0, V10.84; ICD10CM:C69, C69.0, C69.00, C69.01, C69.02, C69.1, C69.10, C69.11, C69.12, C69.2, C69.20, C69.21, C69.22, C69.3, C69.30, C69.31, C69.32, C69.4, C69.40, C69.41, C69.42, C69.5, C69.50, C69.51, C69.52, C69.6, C69.60, C69.61, C69.62, C69.8, C69.80, C69.81, C69.82, C69.9, C69.90, C69.91, C69.92, D09.2, D09.20, D09.21, D09.22 —
[
  • 62 cases
  • , 610 controls
]
 — European — MGI —