SFARI Gene statistics

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SFARI Gene specifications


Unique identifier OMICS_04613
Name SFARI Gene
Restrictions to use None
Community driven No
Data access File download, Browse
User data submission Not allowed
Version 2.0
Maintained Yes


  • Primates
    • Homo sapiens

Publications for SFARI Gene

SFARI Gene citations


Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

Sci Rep
PMCID: 5515956
PMID: 28720891
DOI: 10.1038/s41598-017-06033-1

[…] ribed–. For predicting splice-site variants effect, we utilized PredictSNP2 web interface for its improved performance compared to CADD. In addition, available public Autism genes/variants databases (SFARI Gene; https://gene.sfari.org/autdb/Welcome.do, and AutismKB; http://autismkb.cbi.pku.edu.cn/) were checked for reported SNVs and CNVs in our list of validated genes or bands harboring these gene […]


Synaptic GAP and GEF Complexes Cluster Proteins Essential for GTP Signaling

Sci Rep
PMCID: 5509740
PMID: 28706196
DOI: 10.1038/s41598-017-05588-3

[…] utations in probands with autism, (3) Supplementary Table  from De Rubeis et al. which included 107 genes with an FDR < 0.3 implicated in contributing to autism through the TADA statistical model, 4) SFARI gene database as of February 2016 which was restricted genes containing the SFARI gene rankings 1 – 4 (strong evidence to minimal evidence) and S (syndromic) (5) Supplementary Table  from Fromer […]


Integrative genomic analyses for identification and prioritization of long non coding RNAs associated with autism

PLoS One
PMCID: 5451068
PMID: 28562671
DOI: 10.1371/journal.pone.0178532

[…] s been curated by the Simons Foundation Autism Research Initiative (SFARI) and these genes are scored based on the degree and strength of evidence for implications in ASD []. To avoid any bias in the SFARI gene set, which was manually curated, we also utilized a gene list known as the ME16 module which was identified in an independent unsupervised genome-wide co-expression study in brain tissue [] […]


Cross disorder comparative analysis of comorbid conditions reveals novel autism candidate genes

BMC Genomics
PMCID: 5399393
PMID: 28427329
DOI: 10.1186/s12864-017-3667-9

[…] k [], we generated lists of genes associated to each comorbid condition and, as pointed out previously, in the case of autism, we completed its gene list by adding the ASD candidate genes included in SFARI gene [], Iossifov et al. [] and De Rubeis et al. []. The total number of genes utilized for this study are detailed in Additional file : Table S3. By converting the retrieved gene lists into a b […]


Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

PMCID: 5515576
PMID: 28695822
DOI: 10.7554/eLife.25730.030

[…] Ephrin, nNOS, axonal guidance and glutamate receptor signaling pathways (). 14 of 140 (10%) differentially regulated genes were among the highest ranking candidate autism risk genes identified in the SFARI gene database () (). To determine if some of these genes could be directly regulated by SWI/SNF, we analyzed the ChIP-Seq targets of Smarca4 (Brg1), a core SWI/SNF complex subunit (). 91 of 140 […]


Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders

PMCID: 5022076
PMID: 27483382
DOI: 10.1038/tp.2016.119

[…] genes (N=170) included in the high reliability core data set of the AutismKB database (for details on these two lists see http://autismkb.cbi.pku.edu.cn). ‘03_SFARI_all': all 341 genes listed in the SFARI Gene Autism database, excluding non-supported genes. ‘04_SFARI_score4plus': all 250 genes listed in the SFARI Gene Autism Database with a score ⩾4, that is, genes with minimal evidence in at lea […]


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SFARI Gene institution(s)
Departments of Genetics and Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Zilkha Neurogenetic Institute and Department of Psychiatry and the Behavioral Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA; Department of Molecular Biology, Cell Biology and Biochemistry; Department of Psychiatry and Human Behavior, Brown University, Providence, RI, USA; IMHRO/Staglin Assistant Professor, Department of Psychiatry, Institute for Human Genetics, Center for Neurobiology and Psychiatry, UCSF, San Francisco, CA, USA; MindSpec Inc., McLean, VA, USA; Department of Public Health, Faculty of Health Sciences, Ben-Gurion, University of the Negev, Beer-Sheva, Israel; Simons Foundation Autism Research Initiative, New York, NY, USA
SFARI Gene funding source(s)
Supported by the Simons Foundation.

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