Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 GeneticVariation disease BEFREE Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 GeneticVariation disease BEFREE Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly. 25257502 2014
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 AlteredExpression disease BEFREE Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation. 22504536 2012
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 Biomarker disease BEFREE The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. 25752243 2015
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 CausalMutation disease CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease BEFREE Sequence variants in NRXN1 are associated with differences in cognition, and with schizophrenia and autism. 22832527 2011
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 GeneticVariation disease BEFREE Mutations in the CHD2 gene have been linked to developmental delay, intellectual disability, autism and seizures, CHD8 mutations to autism and intellectual disability, whereas haploinsufficiency of CHD7 is associated with executive dysfunction and intellectual disability. 30277262 2018
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease BEFREE Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of neuropsychiatric and neurodevelopmental disorders, including autism, intellectual disability, epilepsy, developmental delay, and schizophrenia. 24633560 2014
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 Biomarker disease BEFREE The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. 28671691 2017
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 CausalMutation disease CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease LHGDN Neurexin 1alpha structural variants associated with autism. 18490107 2008
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 Biomarker disease CTD_human Excess of rare, inherited truncating mutations in autism. 25961944 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease BEFREE Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality. 31302032 2019
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 Biomarker disease HPO
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease BEFREE A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism. 21626680 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease BEFREE Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. 18945720 2009
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 Biomarker disease CTD_human Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 17322880 2007
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 CausalMutation disease CLINVAR Disruptive CHD8 mutations define a subtype of autism early in development. 24998929 2014
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease BEFREE Mutations in neurexin 1 (NRXN1) as well as two other members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and mutations in NLGN4 have also been associated with intellectual disability, seizures, and EEG abnormalities. 22106001 2012
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease BEFREE The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. 21739571 2011
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease LHGDN Disruption of neurexin 1 associated with autism spectrum disorder. 18179900 2008
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		0.700 Biomarker disease BEFREE The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes. 25989142 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.700 GeneticVariation disease BEFREE Interestingly, there was a statistically significant association of neurexin-1 SNP P300P (rs2303298) with risk of autism (26.2% vs. 13.8%; χ(2) = 22.487; p = 3.45E-006; OR = 2.152 (1.559-2.970)). 22405623 2012