Trait: neuroblastoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000621
Description Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system. [PMID: 32903387]
Trait categories
Cancer
Neurological disorder
Synonyms 16 synonyms
  • (neuroblastoma NOS) or (sympathicoblastoma)
  • Central neuroblastoma
  • NB
  • NB - Neuroblastoma
  • Neuroblastoma, NOS
  • Neuroblastomas
  • Sympathicoblastoma
  • [M]Neuroblastoma NOS
  • [M]Neuroblastoma NOS (morphologic abnormality)
  • neural Crest tumor, malignant
  • neuroblastoma
  • neuroblastoma (Schwannian Stroma-Poor)
  • neuroblastoma (Schwannian Stroma-poor)
  • neuroblastoma (morphologic abnormality)
  • neuroblastoma NOS (morphologic abnormality)
  • neuroblastoma, malignant
Mapped terms 21 mapped terms
  • DOID:769
  • GARD:7185
  • ICDO:9500/3
  • MEDGEN:18012
  • MESH:D009447
  • MONDO:0005072
  • MeSH:D009447
  • MedDRA:10029260
  • NANDO:2200040
  • NCIT:C3270
  • NCIt:C3270
  • NIFSTD:birnlex_12631
  • OMIM:256700
  • OMIM:613013
  • OMIM:613014
  • ONCOTREE:NBL
  • Orphanet:635
  • SCTID:432328008
  • SNOMEDCT:432328008
  • SNOMEDCT:87364003
  • UMLS:C0027819

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)
African
East Asian
South Asian
Additional Asian Ancestries
European
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)
PGS002261
(PRS22_NB)
 PGP000287 |
Testori A et al. Cancer Epidemiol Biomarkers Prev (2022)
 Neuroblastoma neuroblastoma 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002261/ScoringFiles/PGS002261.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
PPM012873 PGS002261
(PRS22_NB)
 PSS009587|
African Ancestry|
3,619 individuals
 PGP000287 |
Testori A et al. Cancer Epidemiol Biomarkers Prev (2022)
 Reported Trait: Neuroblastoma risk — — R²: 0.0203 — —

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
PSS009587 — —
[
  • 629 cases
  • , 2,990 controls
]
 — African American or Afro-Caribbean
(African American)		 — COG —