Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_0003095 |
Description | A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. [NCIT: C84444] | Trait category |
Digestive system disorder
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Synonyms |
5 synonyms
|
Mapped term(s) |
12 mapped terms
|
Polygenic Score (PGS) ID | PGS Name | PGS Publication (PGP) ID | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | PGS Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000655 | NAFLD-10 | PGP000119 Namjou B et al. BMC Med (2019) | Non-alcoholic fatty liver disease | non-alcoholic fatty liver disease | 10 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000655/ScoringFiles/PGS000655.txt.gz |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM001341 | PGS000655 (NAFLD-10) | PSS000584 | PGP000119 Namjou B et al. (2019) |
Reported Trait: Nonalcoholic fatty liver disease severity (NAFLD activity score above 5) | — | AUROC: 0.724 | Odds Ratio (OR, highest vs. lowest quintile): 8.5 [3.45, 20.96] | sex, age, PCs (1-3), BMI, study site/medical centre | — |
PPM001340 | PGS000655 (NAFLD-10) | PSS000583 | PGP000119 Namjou B et al. (2019) |
Reported Trait: Nonalcoholic fatty liver disease | — | AUROC: 0.596 | Odds Ratio (OR, highest vs. lowest quintile): 2.16 [1.81, 2.58] | sex, age, PCs (1-3), BMI, study site/medical centre | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS000584 | Controls are cases with Nonalcoholic fatty liver disease activity score <5 and cases are those with a score >5. Case inclusion ICD codes: ICD9=571.5, ICD9=571.8, ICD9=571.9, ICD10=K75.81, ICD10=K76.0, ICD10=K76.9 | — | [
|
— | European | — | eMERGE | — |
PSS000583 | Case inclusion ICD codes: ICD9=571.5, ICD9=571.8, ICD9=571.9, ICD10=K75.81, ICD10=K76.0, ICD10=K76.9 | — | [ ,
42.6 % Male samples |
— | European | — | eMERGE | — |