Trait: autism spectrum disorder

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003756
Description A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. [NCIT: P378]
Trait category
Neurological disorder
Synonyms 21 synonyms
  • Autism Spectrum Disorders
  • Child Development Disorders, Pervasive
  • Development Disorder, Pervasive
  • Development Disorders, Pervasive
  • Disorder, Autism Spectrum
  • Disorder, Pervasive Development
  • Disorders, Autism Spectrum
  • Disorders, Pervasive Development
  • PDD
  • Pervasive Child Development Disorders
  • Pervasive Development Disorder
  • Pervasive Development Disorders
  • Spectrum Disorder, Autism
  • Spectrum Disorders, Autism
  • autism spectrum disease
  • autism spectrum disorder
  • autistic spectrum disorder
  • pervasive developmental disorder - not otherwise specified
  • pervasive developmental disorders
Mapped terms 11 mapped terms
  • DOID:0060041
  • EFO:0003759
  • MONDO:0005258
  • MeSH:D002659
  • MedDRA:10063844
  • NCIT:C88412
  • NCIt:C88412
  • OMIM:209850
  • OMIM:606053
  • Orphanet:106
  • SCTID:408856003

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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Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGP000098 |
Grove J et al. Nat Genet (2019)
Autism spectrum disorder autism spectrum disorder 35,087

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
PPM000879 PGS000327
European Ancestry|
7,148 individuals
PGP000098 |
Grove J et al. Nat Genet (2019)
Reported Trait: Autism spectrum disorder OR: 1.33 [1.3, 1.36] : 0.0245 Genetic PCs, genotyping wave *Pooled cross-validation performance on 1/5th of iPSYCH sample. PRS is based on full iPSYCH+PGC GWAS

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
PSS000435 Cases were selected from the iPSYCH sample as those diagnosed with ASD in 2013 or earlier by a psychiatrist according to ICD10, including diagnoses of childhood autism (ICD10 code F84.0), atypical autism (F84.1), Asperger’s syndrome (F84.5), other pervasive developmental disorders (F84.8), and pervasive developmental disorder, unspecified (F84.9). As controls we selected from the random iPSYCH control cohort children that did not have an ASD diagnosis by 2013.
  • 2,615 cases
  • , 4,532 controls
Mean (Age At Diagnosis) = 10.0 years
Range = [10.0, 14.0] years
European iPSYCH Average case/control numbers of each fold used in cross-validation (1/5th of total iPSYCH).