Trait: ocular cancer

Trait Information
Identifier MONDO_0002236
Description A benign or malignant neoplasm affecting the structures of the eye. [NCIT: P378]
Trait category
Cancer
Neurological disorder
Synonyms 16 synonyms
  • cancer of eye
  • cancer of eyeball of camera-type eye
  • cancer of the eye
  • eye cancer
  • eye neoplasm, malignant
  • eyeball of camera-type eye cancer
  • malignant eye neoplasm
  • malignant eye tumor
  • 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 tumor of eye
  • malignant tumor of the eye
Mapped term(s) 6 mapped terms
  • DOID:2174
  • ICD9:190.8
  • ICD9:239.89
  • MESH:D005134
  • NCIT:C4767
  • SCTID:371486001

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000617 PRSWEB_PHECODE190_20001-1030_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Cancer of eye ocular cancer 834,009 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000617/ScoringFiles/PGS000617.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS 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 PGP000118
Fritsche LG et al. (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 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
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