Trait: renal carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0002890
Description A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. [NCIT: C9384]
Trait category
Cancer
Synonyms 21 synonyms
  • renal carcinoma
  • kidney (including renal cell) cancer
  • Carcinomas, Nephroid
  • Hypernephromas
  • Tumor, Grawitz
  • renal cancer
  • kidney (renal) cancer
  • Carcinomas, Hypernephroid
  • Carcinoma, Hypernephroid
  • kidney cancer
  • carcinoma of kidney
  • Hypernephroid Carcinomas
  • Carcinoma, Nephroid
  • Renal Collecting Duct Carcinoma
  • Nephroid Carcinomas
  • kidney carcinoma
  • Hypernephroid Carcinoma
  • Kidney Carcinoma
  • Nephroid Carcinoma
  • Hypernephroma
  • Grawitz Tumor
Mapped term(s) 7 mapped terms
  • UMLS:C1378703
  • NCIT:C9384
  • DOID:4451
  • NCIt:C9384
  • OMIM:144700
  • SNOMEDCT:188251003
  • MONDO:0005206

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Number of Variants PGS Scoring File (FTP Link)
PGS000161 cGRS_Renal PGP000075
Shi Z et al. Cancer Med (2019) 		Renal cancer 10 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000161/ScoringFiles/PGS000161.txt.gz

PGS 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 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
PPM000492 PGS000161 (cGRS_Renal) PSS000281 PGP000075
Shi Z et al. (2019) 		Reported Trait: Renal cancer — — Odds Ratio (OR; high vs. average risk groups): 1.58[1.14, 2.18] — —
PPM000481 PGS000161 (cGRS_Renal) PSS000281 PGP000075
Shi Z et al. (2019) 		Reported Trait: Renal cancer — — Mean realative risk: 1.09[1.06, 1.12]
Wilcoxon test (case vs. control) p-value: 8.66e-10		 — —

Evaluated Samples

PGS Sample Set ID
(PSS ID) 		Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000281 Primary tumor samples from TCGA —
[
  • 453 cases
  • , 0 controls
]
 Mean = 62.0 years
Sd = 12.0 years		 European — TCGA —
PSS000281 — —
[
  • 0 cases
  • , 13,427 controls
]
 — European — eMERGE —