Human Gene


Our researchers manually curate the data contained in the Human Gene module from peer-reviewed, primary reference articles. The goal is to extensively annotate scientific evidence for all human genes shown to potentially have associations with ASD. A summary of general details is provided for each gene, including information such as aliases, chromosomal location, molecular function, GeneCard URL, Uniprot and OMIM IDs, as well as a summary of the evidence linking the gene to autism. As of February 2016, approximately 800 genes have been fully curated with at least a primary reference and support papers, if available.

For each scientific report, the Human Gene module typically contains three sections:


Study Description

A short introduction to the study that includes details about how the study was performed, such as the number of patients/families, the number of controls, the types of tests used (mutation screening, family-based association, case-control), etc.


Summary Evidence

A narrative that provides details about the overall findings of the report and their potential significance.


Sequence variation(s)

Broadly, these data outline whether a given variant is a common single nucleotide polymorphism (SNP) or a rare variant (sometimes occurring in only one individual). More specifically, the annotations describe the true molecular details of the variation, including information such as nucleotide or amino acid change, position, inheritance details, functional changes, etc., when those details are available.

As of October of 2011, 596 gene references have been manually curated for the Human Gene module. From these references, 1141 rare variations in these genes have been annotated as well as 508 common genetic variations.

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