Trait: renal cell carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000681
Description A carcinoma that arises from glandular epithelial cells of the kidney [MONDO: DesignPattern]
Trait category
Synonyms 41 synonyms
  • Adenocarcinoma of Kidney
  • Adenocarcinoma of the Kidney
  • Adenocarcinoma, Renal Cell
  • Adenocarcinomas, Renal Cell
  • Cancer, Renal Cell
  • Cancers, Renal Cell
  • Carcinoma of kidney
  • Carcinoma, Hypernephroid
  • Carcinoma, Nephroid
  • Carcinoma, Renal Cell
  • Carcinomas, Hypernephroid
  • Carcinomas, Nephroid
  • Carcinomas, Renal Cell
  • Grawitz Tumor
  • Grawitz tumour
  • Hypernephroid Carcinoma
  • Hypernephroid Carcinomas
  • Hypernephroma
  • Hypernephroma (disorder)
  • Hypernephromas
  • Kidney Adenocarcinoma
  • Nephroid Carcinoma
  • Nephroid Carcinomas
  • RCC
  • Renal Cell Adenocarcinoma
  • Renal Cell Adenocarcinomas
  • Renal Cell Cancers
  • Renal Cell Carcinoma
  • Renal Cell Carcinoma, Stage Unspecified
  • Renal Cell Carcinomas
  • Renal Collecting Duct Carcinoma
  • Renal cell carcinoma (morphologic abnormality)
  • Renal cell carcinoma - morphology
  • Sarcomatoid Renal Cell Carcinoma
  • Tumor, Grawitz
  • adenocarcinoma of kidney
  • hypernephroma
  • kidney adenocarcinoma
  • renal cell cancer
  • renal cell carcinoma
  • renal cell carcinoma (disease)
Mapped term(s) 16 mapped terms
  • DOID:4450
  • GARD:0013215
  • HP:0005584
  • ICD9:189.0
  • MESH:D002292
  • MONDO:0005086
  • MeSH:D002292
  • MedDRA:10067946
  • NCIt:C9385
  • OMIM:144700
  • OMIM:300854
  • Orphanet:217071
  • SCTID:702391001
  • SNOMEDCT:41607009
  • SNOMEDCT:702391001

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:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
East Asian
South Asian
Additional Asian Ancestries
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 PGS Scoring File (FTP Link)
PGP000050 |
Graff RE et al. bioRxiv (2020)
Kidney cancer renal cell carcinoma 19

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
PPM000196 PGS000076
European Ancestry|
411,695 individuals
PGP000050 |
Graff RE et al. bioRxiv (2020)
Reported Trait: Kidney cancer OR: 1.21 [1.14, 1.27] Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB

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
PSS000115 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 29020
  • 1,341 cases
  • , 410,354 controls
46.0 % Male samples
Mean = 58.0 years European GERA, UKB