Trait: chronic kidney disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003884
Description Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. [NCIT: C80078]
Trait category
Other disease
Synonyms 34 synonyms
  • CKD
  • CKD - chronic kidney disease
  • Chronic Kidney Insufficiencies
  • Chronic Kidney Insufficiency
  • Chronic Renal Failure
  • Chronic Renal Insufficiencies
  • Disease, End-Stage Kidney
  • Disease, End-Stage Renal
  • ESRD
  • End Stage Kidney Disease
  • End Stage Renal Disease
  • End-Stage Kidney Disease
  • End-Stage Renal Disease
  • End-Stage Renal Failure
  • Kidney Disease, End-Stage
  • Kidney Failure, Chronic
  • Kidney Insufficiencies, Chronic
  • Kidney Insufficiency, Chronic
  • Renal Disease, End Stage
  • Renal Disease, End-Stage
  • Renal Failure, Chronic
  • Renal Failure, End Stage
  • Renal Failure, End-Stage
  • Renal Insufficiencies, Chronic
  • Renal Insufficiency, Chronic
  • chronic kidney disease
  • chronic kidney failure
  • chronic renal disease
  • chronic renal insufficiency
  • kidney disease, chronic
  • renal failure - chronic
Mapped term(s) 16 mapped terms
  • COHD:46271022
  • DOID:784
  • ICD10:N18
  • ICD10:N18.9
  • ICD9:585
  • ICD9:585.6
  • MESH:D007676
  • MONDO:0005300
  • MSH:D007676
  • MSH:D051436
  • NCIT:C80078
  • NCIt:C80078
  • SCTID:709044004
  • SNOMEDCT:46177005
  • SNOMEDCT:90688005
  • UMLS:C0022661

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)
PGS000728 CKD_PGS PGP000137
Ritchie SC et al. bioRxiv (2019)
Chronic kidney disease chronic kidney disease 1,958,860

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
Evaluated Score PGS Sample Set 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
PPM001669 PGS000728
PSS000870 PGP000137
Ritchie SC et al. bioRxiv (2019)
Reported Trait: Estimated Glomerular Filtration Rate (eGFR) β: -0.9 [-1.45, -0.36] age, sex, 10 genetic PCs

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
PSS000870 Serum creatinine was quantified by Metabolon HD4 metabolomics in mg/dL units, and adjusted for sample measurement batch, sample measurement plate, and days between blood draw and sample processing. Subsequently, eGFR was quantified from serum creatinine using the CKD-EPI equation 3,037 individuals,
51.0 % Male samples
Median = 44.0 years
Iqr = [30.5, 54.7] years