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 DIS PERVASIVE
  • Child Development Disorders, Pervasive
  • Development Disorder, Pervasive
  • Development Disorders, Pervasive
  • Disorder, Autism Spectrum
  • Disorder, Pervasive Development
  • Disorders, Autism Spectrum
  • Disorders, Pervasive Development
  • PERVASIVE CHILD DEVELOPMENT DIS
  • Pervasive Child Development Disorders
  • Pervasive Development Disorder
  • Pervasive Development Disorders
  • Spectrum Disorder, Autism
  • Spectrum Disorders, Autism
  • atypical autism
  • autism spectrum disease
  • autism spectrum disorder
  • autistic spectrum disorder
  • pervasive developmental disorder - not otherwise specified
  • pervasive developmental disorders
Mapped terms 14 mapped terms
  • DOID:0060041
  • DOID:0060042
  • EFO:0003759
  • MONDO:0005258
  • MeSH:D002659
  • MedDRA:10063844
  • NCIT:C88412
  • NCIt:C88412
  • OMIM:209850
  • OMIM:606053
  • OMIMPS:209850
  • Orphanet:106
  • SCTID:231536004
  • 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:
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 Scoring File (FTP Link)
PGS000327
(ASD2019)
PGP000098 |
Grove J et al. Nat Genet (2019)
Autism spectrum disorder autism spectrum disorder 35,087
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000327/ScoringFiles/PGS000327.txt.gz
PGS002790
(ASD_SDPR)
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Autism spectrum disorder autism spectrum disorder 916,713
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002790/ScoringFiles/PGS002790.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
PPM000879 PGS000327
(ASD2019)
PSS000435|
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
PPM015302 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (anxious/depressed) partial R²: 4.69e-07 age, PCs1-3
PPM015363 PGS002790
(ASD_SDPR)
PSS009951|
European Ancestry|
78,561 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (fluid composite) partial R²: 0.00176 age, PCs1-10 the observed partial R² were higher than random R²s
PPM015303 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (withdrawn) partial R²: 0.00125 age, PCs1-3
PPM015304 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (somatic symptoms) partial R²: 0.00061 age, PCs1-3
PPM015305 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (social problems) partial R²: 0.00012 age, PCs1-3
PPM015306 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (thought problems) partial R²: 0.00063 age, PCs1-3
PPM015307 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (attention problems) partial R²: 0.0025 age, PCs1-3
PPM015308 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (rule breaking) partial R²: 0.0002 age, PCs1-3
PPM015309 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (aggressive behaviour) partial R²: 0.00071 age, PCs1-3
PPM015310 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (internalising) partial R²: 0.00037 age, PCs1-3
PPM015311 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (externalising) partial R²: 0.00059 age, PCs1-3
PPM015313 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 depression) partial R²: 0.00043 age, PCs1-3
PPM015314 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 anxety disorder) partial R²: 1.74e-06 age, PCs1-3
PPM015315 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 somatic problem) partial R²: 0.00075 age, PCs1-3
PPM015316 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 adhd) partial R²: 0.00167 age, PCs1-3
PPM015317 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 opppsit) partial R²: 0.00068 age, PCs1-3
PPM015318 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 conduct) partial R²: 0.00049 age, PCs1-3
PPM015319 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Sluggish cognitive tempo) partial R²: 0.0033 age, PCs1-3
PPM015320 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Obsessive compulsive disorder) partial R²: 0.00017 age, PCs1-3
PPM015321 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (stress) partial R²: 0.00052 age, PCs1-3
PPM015323 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Flanker test) partial R²: 0.00024 age, PCs1-3
PPM015324 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (list sorting) partial R²: 0.00119 age, PCs1-3
PPM015325 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (card sorting) partial R²: 0.00056 age, PCs1-3
PPM015326 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (pattern comparison) partial R²: 0.00012 age, PCs1-3
PPM015327 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Picture sequence) partial R²: 0.00063 age, PCs1-3
PPM015328 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (reading) partial R²: 0.0005 age, PCs1-3
PPM015329 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (fluid composite) partial R²: 4e-05 age, PCs1-3
PPM015330 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Crystallized composite) partial R²: 0.0013 age, PCs1-3
PPM015331 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Cognitive total) partial R²: 0.00017 age, PCs1-3
PPM015333 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (anxious/depressed) partial R²: 0.00313 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015334 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (withdrawn) partial R²: 0.00546 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015335 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (somatic symptoms) partial R²: 0.00032 age, PCs1-3
PPM015336 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (social problems) partial R²: 0.00287 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015337 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (thought problems) partial R²: 0.00221 age, PCs1-3
PPM015338 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (attention problems) partial R²: 0.00377 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015339 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (rule breaking) partial R²: 0.00135 age, PCs1-3
PPM015340 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (aggressive behaviour) partial R²: 0.00138 age, PCs1-3
PPM015341 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (internalising) partial R²: 0.00344 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015342 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (externalising) partial R²: 0.00156 age, PCs1-3
PPM015343 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (total problems) partial R²: 0.00382 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015344 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 depression) partial R²: 0.00429 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015345 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 anxety disorder) partial R²: 0.00227 age, PCs1-3
PPM015346 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 somatic problem) partial R²: 0.00025 age, PCs1-3
PPM015347 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 adhd) partial R²: 0.00296 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015348 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 opppsit) partial R²: 0.00205 age, PCs1-3
PPM015349 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Dsm5 conduct) partial R²: 0.00133 age, PCs1-3
PPM015350 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Sluggish cognitive tempo) partial R²: 0.00422 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015352 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (stress) partial R²: 0.00239 age, PCs1-3
PPM015353 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Picture vocabulary) partial R²: 1e-05 age, PCs1-3
PPM015354 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Flanker test) partial R²: 0.00035 age, PCs1-3
PPM015355 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (list sorting) partial R²: 0.00075 age, PCs1-3
PPM015356 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (card sorting) partial R²: 8e-05 age, PCs1-3
PPM015357 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (pattern comparison) partial R²: 2.82e-07 age, PCs1-3
PPM015358 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Picture sequence) partial R²: 0.00121 age, PCs1-3
PPM015359 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (reading) partial R²: 0.00013 age, PCs1-3
PPM015360 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (fluid composite) partial R²: 0.00021 age, PCs1-3
PPM015361 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Crystallized composite) partial R²: 6e-05 age, PCs1-3
PPM015312 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (total problems) partial R²: 0.00075 age, PCs1-3
PPM015322 PGS002790
(ASD_SDPR)
PSS009950|
European Ancestry|
2,524 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Picture vocabulary) partial R²: 0.00168 age, PCs1-3
PPM015332 PGS002790
(ASD_SDPR)
PSS009953|
European Ancestry|
68,614 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (fluid composite) partial R²: 0.00026 age, PCs1-10 the observed partial R² were higher than random R²s
PPM015351 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Psychiatric behavior (Obsessive compulsive disorder) partial R²: 0.00258 age, PCs1-3 the observed partial R² were higher than random R²s
PPM015362 PGS002790
(ASD_SDPR)
PSS009949|
European Ancestry|
2,198 individuals
PGP000370 |
Gui Y et al. Transl Psychiatry (2022)
Reported Trait: Cognitive function (Cognitive total) partial R²: 0.00021 age, PCs1-3

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
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).
PSS009949 NIH Toolbox was used to measure cognition in ABCD. Children’s problems and competencies were rated using the parent-reported Children Behavior Checklist (CBCL). Details of the ABCD MRI data acquisition and analysis have been published previously. 2,198 individuals,
0.0 % Male samples
Mean = 9.89 years
Sd = 0.61 years
European ABCD
PSS009950 NIH Toolbox was used to measure cognition in ABCD. Children’s problems and competencies were rated using the parent-reported Children Behavior Checklist (CBCL). Details of the ABCD MRI data acquisition and analysis have been published previously. 2,524 individuals,
100.0 % Male samples
Mean = 9.92 years
Sd = 0.62 years
European ABCD
PSS009951 Fluid intelligence test 78,561 individuals,
0.0 % Male samples
Mean = 57.46 years
Sd = 8.08 years
European UKB
PSS009953 Fluid intelligence test 68,614 individuals,
100.0 % Male samples
Mean = 58.39 years
Sd = 8.36 years
European UKB