Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51166
Gene Symbol: AADAT
AADAT
0.010 GeneticVariation disease BEFREE The novel de novo splice alteration c.664 + 2T > G in the DEAF1 gene and the novel de novo missense mutation c.95 C > T in the AADAT gene associated with ASD may be important clues for exploring the etiology of this disorder. 29366832 2018
Entrez Id: 15
Gene Symbol: AANAT
AANAT
0.020 Biomarker disease BEFREE Our results elucidate the enzymatic mechanism for melatonin deficit in ASD, involving a reduction of both enzyme activities contributing to melatonin synthesis (AANAT and ASMT), observed in the pineal gland as well as in gut and platelets of patients. 28522826 2017
Entrez Id: 15
Gene Symbol: AANAT
AANAT
0.020 GeneticVariation disease BEFREE In the present study, we have investigated all the genes involved in the melatonin pathway by mutation screening of AA-NAT (arylalkylamine N-acetyltransferase), ASMT, MTNR1A, MTNR1B (melatonin receptor 1A and 1B) and GPR50 (G protein-coupled receptor 50), encoding both synthesis enzymes and the three main receptors of melatonin, in 109 patients with autism spectrum disorders (ASD). 20377855 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT
0.010 Biomarker disease BEFREE There was, however, a significant positive association between GABA at the STS and autism-related social impairments in females with ASD. 29500101 2018
Entrez Id: 154664
Gene Symbol: ABCA13
ABCA13
0.020 GeneticVariation disease BEFREE Mutations in ATP binding cassette subfamily A member 13 (ABCA13) have been recently identified in a monkey that displays behavior associated with ASD. 29092799 2018
Entrez Id: 154664
Gene Symbol: ABCA13
ABCA13
0.020 GeneticVariation disease BEFREE The neuropathological investigation of the brain in a monkey model of autism spectrum disorder with ABCA13 deletion. 30201574 2018
Entrez Id: 10347
Gene Symbol: ABCA7
ABCA7
0.010 Biomarker disease BEFREE The double ABCX model of adaptation has been used to predict parental outcomes in parents of children with autism spectrum disorder (ASD), with predictors including child characteristics, pile up of demands, external resources, coping, parental perceptions, and internal resources. 31267283 2019
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.010 Biomarker disease BEFREE Possible influence of variant of the P-glycoprotein gene (MDR1/ABCB1) on clinical response to guanfacine in children with pervasive developmental disorders and hyperactivity. 20166790 2010
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
0.010 Biomarker disease BEFREE The Aberrant Behavior Checklist Japanese version (ABC-J), the Food Related Problem Questionnaire (FRPQ), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 65 PWS patients, including 20 adolescents (ages 12 to 17) and 45 young adults (ages 18 to 29). 29440778 2017
Entrez Id: 31
Gene Symbol: ACACA
ACACA
0.010 Biomarker disease BEFREE There is limited evidence that verbally based and ACC interventions improve spoken and non-verbal communication in minimally verbal children with ASD. 30395694 2018
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.020 Biomarker disease BEFREE SLC25A12, an ASD susceptibility gene, encodes the Ca(2+)-regulated mitochondrial aspartate-glutamate carrier, isoform 1 (AGC1). 21691713 2011
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.020 Biomarker disease BEFREE Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1. 18607376 2010
Entrez Id: 57007
Gene Symbol: ACKR3
ACKR3
0.010 AlteredExpression disease BEFREE CX3CR1, a G protein-coupled receptor solely expressed by microglia in the brain, has been repeatedly reported to be associated with neurodevelopmental disorders including schizophrenia (SCZ) and autism spectrum disorders (ASD) in transcriptomic and animal studies but not in genetic studies. 28763059 2017
Entrez Id: 6296
Gene Symbol: ACSM3
ACSM3
0.010 Biomarker disease BEFREE Changes in major C1 metabolites, such as the ratios between betaine/choline and SAM/SAH in the cerebral-cortex, were associated with ASD-like behavior. 31133774 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 Biomarker disease BEFREE This study reveals a novel FMRP mechanism controlling neuronal PKA activity, and demonstrates a shared mechanistic connection between FXS and NBEA associated ASD disease states, with a common link to PKA and F-actin misregulation in brain neural circuits. 30771457 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 Biomarker disease BEFREE In this review, we will discuss recent findings of defective actin regulation in dendritic spines associated with ASD. 28870634 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 Biomarker disease BEFREE Together, our findings implicate both excessive and reduced Trio activity and the resulting synaptic dysfunction in ASD-related pathogenesis, and point to the Trio-Rac1 pathway at glutamatergic synapses as a possible key point of convergence of many ASD-related genes.Trio is a RhoGEF protein that promotes actin polymerization and is implicated in the regulation of glutamatergic synapses in autism spectrum disorder (ASD). 28928363 2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 Biomarker disease BEFREE Thus, it is important to understand how different ASD-associated actin regulators contribute to the regulation of dendritic spines and how ASD-associated mutations modulate this regulation. 30123108 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 Biomarker disease BEFREE Given that the neuronal cytoskeleton and astrocytes have an essential role in regulating several mechanisms of neural plasticity, the aim of this work was to study alterations in the content of neuronal cytoskeletal components actin and tubulin and their associated proteins, as well as astrocytic proteins GFAP and TSP-1 in the brain of a C58/J mouse model of ASD. 29885454 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 GeneticVariation disease BEFREE Disease-specific processes were identified in ID (actin cytoskeleton processes), schizophrenia (ubiquitin-related processes), and ASD (synaptic vesicle transport and exocytosis). 23582872 2013
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 AlteredExpression disease BEFREE This deletion may reveal a new contiguous deletion syndrome in which ELMOD3, known to be implicated in autosomal recessive deafness underlies the HI of the proband and CAPG, member of actin regulatory proteins involved in cytoskeletal dynamic, an important function for brain development and activity, underlies the ASD/ID phenotype. 30284680 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 AlteredExpression disease BEFREE CYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is overexpressed in Dup15q syndrome as well as autism spectrum disorder (ASD). 31198525 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 Biomarker disease BEFREE Moreover, altered regulation of the neuronal actin cytoskeleton has been implicated in neuropsychiatric diseases such as autism spectrum disorder (ASD). 31474830 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 GeneticVariation disease BEFREE Given the crucial involvement of actin in these mechanisms, dysregulations of spine actin dynamics (reflected by alterations in dendritic spine morphology) can be found in a variety of neurological disorders ranging from schizophrenia to several forms of autism spectrum disorders such as fragile X syndrome (FXS). 29380377 2018
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
0.010 GeneticVariation disease BEFREE Our results provide further evidence supporting a causative role for ACTC1 mutations in ASD. 24461919 2014