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 19 synonyms
  • Development Disorders, Pervasive
  • autistic spectrum disorder
  • Pervasive Child Development Disorders
  • Spectrum Disorders, Autism
  • Autism Spectrum Disorders
  • Disorder, Pervasive Development
  • CHILD DEVELOPMENT DIS PERVASIVE
  • pervasive developmental disorders
  • Development Disorder, Pervasive
  • Disorders, Autism Spectrum
  • Disorder, Autism Spectrum
  • Pervasive Development Disorder
  • autism spectrum disease
  • PERVASIVE CHILD DEVELOPMENT DIS
  • Disorders, Pervasive Development
  • Child Development Disorders, Pervasive
  • autism spectrum disorder
  • Pervasive Development Disorders
  • Spectrum Disorder, Autism
Mapped term(s) 8 mapped terms
  • OMIM:209850
  • MONDO:0005258
  • NCIT:C88412
  • DOID:0060041
  • NCIt:C88412
  • COHD:439776
  • MSH:D002659
  • OMIM:606053

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000327 ASD2019 PGP000098 Grove J et al. Nat Genet (2019) Autism spectrum disorder autism spectrum disorder 35,087 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000327/ScoringFiles/PGS000327.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
PPM000879 PGS000327 (ASD2019) PSS000435 PGP000098
Grove J et al. (2019) 		Reported Trait: Autism spectrum disorder OR: 1.33[1.3, 1.36] — R²: 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
(PSS 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).