Genotator: A disease-agnostic tool for genetic annotation of disease

BMC Medical Genomics

Table 4 Top scoring autism genes ranked on Genotator score.

Gene	Score	Literature Support	Reference	AG Classification
SLC6A4	136.7	Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism.	[32]	Probable
NRXN1	27.2	Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.	[33]	Promising
FMR1	22.6	Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism	[34]	Probable
PTEN	19.6	Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.	[35]	Probable
FRAXA*	17.9	Point mutation analysis of the FMR-1 gene in autism.	[36]
FRAXE*	17.9	Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE.	[37]
FRAXF*	17.3	Mental impairment and attention deficit hyperactivity disorder in a family with FRAXF.	[38]
CNTNAP2	15.9	Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.	[39, 35]	Probable
UBE3A	14.5	Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.	[40]	Probable
CDH10	12	Common genetic variants on 5p14.1 associate with autism spectrum disorders.	[41]

The table lists the title and reference of the research study supporting the gene-disease association together with the official gene symbol. We used the review article by Abrahams and Geschwind (2008) as a source for the most promising autism gene candidates (AG classification). Starred genes are those that did not appear in SFARI Gene. The complete results are available online as Additional file 1.

ISSN: 1755-8794