Trait: primitive neuroectodermal tumor

Trait Information
Identifier MONDO_0005462
Description A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors. [NCIT: C3716]
Trait category
Other trait
Synonyms 8 synonyms
  • PNET
  • neuroectodermal neoplasm
  • neuroectodermal tumor
  • neuroectodermal tumour
  • primitive neuroectodermal neoplasm
  • primitive neuroectodermal tumor
  • primitive neuroectodermal tumor (PNET)
  • primitive neuroectodermal tumour (PNET)
Child trait(s) neuroblastoma

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
Note: This table shows PGS for child terms of "primitive neuroectodermal tumor" in the EFO hierarchy.
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 —