Human Gene

About the Human Gene Module

The Human Gene module of SFARI Gene serves as a comprehensive, up-to-date reference for all known human genes associated with autism spectrum disorders (ASD).

The Human Gene module is the central component of SFARI Gene. The other modules of SFARI Gene (Animal Model, Gene Scoring, and Copy Number Variant (CNV)) are seamlessly integrated into the Human Gene module via a single search engine. The first Human Gene module was released in January of 2007, and in 2009 it was featured in the journal Nucleic Acids Research. There are currently ~800 genes in the Human Gene module that have potential links to ASD. These genes fall into four genetic categories: Rare, Syndromic, Association and Functional.

Genetic Categories



Rare single gene variants, disruptions/mutations, and submicroscopic deletions/duplications directly linked to ASD



Genes implicated in syndromes in which a significant subpopulation develops symptoms of autism (examples: Angelman Syndrome, Fragile X Syndrome)



Small risk-conferring common polymorphisms identified from genetic association studies in idiopathic ASD



Functional candidates not yet genetically linked with ASD

The Human Gene module was created to consolidate the vast amount of information embedded in peer-reviewed journals into a more readily accessible collection of genetic data pertaining to ASD. These data include genetic variants across the ASD risk spectrum, from rare monogenic causes to common variants of weaker effect. All database entries are reviewed by our internal research teams, organized into categories that can be easily navigated by users in the autism research community, and continuously updated.

The dynamic nature of the database provides a window into the current state of research and furthers SFARI's mission to promote the understanding, diagnosis, and treatment of autism spectrum disorders.

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