Trait: nephrotic syndrome

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004255
Description A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. [NCIT: C34845]
Trait category
Other disease
Synonyms 6 synonyms
  • nephrosis
  • nephrotic syndrome
  • nephrotic syndrome (acquired)
  • nephrotic syndromes
  • syndrome, nephrotic
  • syndromes, nephrotic
Mapped terms 20 mapped terms
  • DOID:1184
  • ICD10:N04
  • ICD9:581
  • ICD9:581.9
  • MESH:D009404
  • MONDO:0005377
  • MeSH:D009404
  • MedDRA:10029164
  • NCIT:C34845
  • NCIt:C34845
  • OMIM:615861
  • OMIM:617783
  • OMIM:618176
  • OMIM:618177
  • OMIM:618178
  • OMIM:618594
  • Orphanet:564127
  • SCTID:52254009
  • SNOMEDCT:52254009
  • UMLS:C0027726

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
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Multi-ancestry (excluding European)
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Additional Asian Ancestries
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Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
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)
PGS003354
(SSNS-GRS)
 PGP000407 |
Downie ML et al. Pediatr Nephrol (2022)
 Childhood steroid-sensitive nephrotic syndrome nephrotic syndrome 5
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003354/ScoringFiles/PGS003354.txt.gz

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
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM016206 PGS003354
(SSNS-GRS)
 PSS010057|
European Ancestry|
597 individuals
 PGP000407 |
Downie ML et al. Pediatr Nephrol (2022)
 Reported Trait: Non-monogenic idiopathic nephrotic syndrome — AUROC: 0.638 [0.543, 0.733] — — —

Evaluated Samples

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
PSS010057 — — 597 individuals — European — NR BRIDGE