| 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
|
| Child trait(s) | device complication |
| 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) |
|---|---|---|---|---|---|---|
| PGS000870 (CFRD_18) |
PGP000214 | Aksit MA et al. J Clin Endocrinol Metab (2020) |
Cystic fibrosis related diabetes | complication | 18 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000870/ScoringFiles/PGS000870.txt.gz |
| PGS004500 (disease.T84.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
T84 (Complications of internal orthopaedic prosthetic devices, implants and grafts) | device complication | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004500/ScoringFiles/PGS004500.txt.gz |
| PGS004570 (meta.T84.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
T84 (Complications of internal orthopaedic prosthetic devices, implants and grafts) | device complication | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004570/ScoringFiles/PGS004570.txt.gz |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM002417 | PGS000870 (CFRD_18) |
PSS001093| 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) | — |
| PPM020615 | PGS004500 (disease.T84.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: T84 (Complications of internal orthopaedic prosthetic devices, implants and grafts) | OR: 1.12485 | — | — | — | — |
| PPM020685 | PGS004570 (meta.T84.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: T84 (Complications of internal orthopaedic prosthetic devices, implants and grafts) | OR: 1.14151 | — | — | — | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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. | — | [ ,
54.82 % Male samples |
Mean = 22.7 years | Not reported | — | JHU | — |
| PSS011364 | — | — | 56,192 individuals | — | European | — | UKB | — |