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. Author manuscript; available in PMC: 2022 Aug 1.
Published in final edited form as: IEEE J Biomed Health Inform. 2019 Sep 5;24(5):1456–1468. doi: 10.1109/JBHI.2019.2939149

TABLE I.

Rated Contrast Subgroups and Ratio of Published Significant Genes

Subgroup 1 a Subgroup 2 No. of Discovered Genes No. of Discovered Genes also in AutDB b No. of PubMed Articles


Population Variable(s) Cohort Size Population Variable(s) Cohort Size Number Number Number
Low SSC Full Scale IQ 459 vs High SSC Full Scale IQ 373 5 1 2242
Normal to Speak Sentences 346 vs Late to Speak Sentences 304 16 3 5130

Mid RBS-R Overall Score AND
Low CBCL6 Social Score
202 vs Low RBS-R Overall Score AND
Low CBCL6 Social Score
77 44 6 898
Low ABC III Stereotypy Scale AND
Late to Use Words
171 vs High ABC III Stereotypy Scale AND
Late to Use Words
159 18 2 452

Mid Vineland II Daily Living AND
High Height Z Score AND
High ADIR C Total
253 vs High Vineland II Daily Living AND
High Height Z Score AND
High ADIR C Total
54 22 4 0
Mid CBCL6 Rule Breaking Score AND
Low CBCL6 Activities Score AND
High SRS-P Total Score
228 vs High CBCL6 Rule Breaking Score AND
Low CBCL6 Activities Score AND
High SRS-P Total Score
59 25 4 0

SSC Full Scale IQ = Simons Simplex Complex Full Scale IQ, RBS-R = Repetitive Behaviors Scale-Revised, CBCL6 = Child Behavior Checklist for ages 6-18, ABC III = Aberrant Behavior Checklist-Stereotype Scale, Vineland II Daily Living = Vineland Adaptive Behavior Scales-Second Edition in Daily Living domain, ADIR C Total = Autism Diagnostic Interview-Revised (ADI-R)-Restricted, Repetitive, and Stereotyped Patterns of Behavior total score, SRS-P = Social Responsiveness Scale – Parent Report.

Details about significant genes are in the Supplement 1.