Trait: complication

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009518
Description Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure. [ NCI ]
Trait category
Other disease
Mapped terms 6 mapped terms
  • ICD10:T79
  • ICD10:T80
  • ICD10:T81
  • ICD10:T87
  • ICD10:T88
  • NCIt:C2959

Associated Polygenic Score(s)

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G - Source of Variant Associations (GWAS)
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E - PGS Evaluation
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Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGP000214 |
Aksit MA et al. J Clin Endocrinol Metab (2020)
Cystic fibrosis related diabetes complication 18

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
PPM002417 PGS000870
Ancestry Not Reported|
591 individuals
PGP000214 |
Aksit MA et al. J Clin Endocrinol Metab (2020)
Reported Trait: Cystic-fibrosis related diabetes onset HR: 1.35 AUROC: 0.5798 PCs(1-4)

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
PSS001093 All individuals had cystic fibrosis with either 2 severe CFTR mutations and/or clinically diagnosed exocrine pancreatic insufficiency. Cases are individuals with cystic fibrosis related diabetes (CFRD).Phenotypes were obtained from extracted medical charts and CF Foundation Patient Registry through 2011. CFRD was defined by clinician diagnosis of diabetes plus insulin treatment for at least 1 year. The onset of CFRD was defined as the date at which insulin was started, if it was subsequently continued for at least 1 year. In approximately 50% of the participants, independent laboratory data (such as oral glucose tolerance test or hemoglobin A1c) were able to independently confirm the diagnosis of CFRD. Diabetes data were censored at the last clinic visit or date of solid organ transplant.
  • 204 cases
  • , 387 controls
54.82 % Male samples
Mean = 22.7 years Not reported JHU