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
|
Mapped terms |
15 mapped terms
|
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) |
---|---|---|---|---|---|---|
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 |
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] | — | 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 |
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Reported Trait: Psychiatric behavior (withdrawn) | — | — | partial R²: 0.00125 | age, PCs1-3 | — |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 | — |
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. | — | [
|
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 | — |