Condition: Autistic behavior


rs387907144 in ARID1B gene and Autistic behavior PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs1555649483 in BPTF gene and Autistic behavior PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1554904772 in BRSK2 gene and Autistic behavior PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs1554904159 in BRSK2;LOC107984298 gene and Autistic behavior PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs1057519565 in DEAF1 gene and Autistic behavior PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs1553368900 in NRXN1 gene and Autistic behavior PMID 23533028 2013 Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

PMID 22617343 2012 Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

rs1554297905 in RALA gene and Autistic behavior PMID 30500825 2018 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

rs1567368243 in SIN3A gene and Autistic behavior PMID 30267900 2019 Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.