Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 414
Gene Symbol: ARSD
ARSD
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.100 GeneticVariation BEFREE <b>Highlights</b> Autism spectrum disorder (ASD) has a prevalence of 1 in 68 children in the United States.ASDs are highly heterogeneous in their genetic basis.ASDs share common features at the cellular and molecular levels in the brain.Most ASD genes are implicated in neurogenesis, structural maturation, synaptogenesis and function. 29209173

2017

Entrez Id: 9344
Gene Symbol: TAOK2
TAOK2
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 GeneticVariation BEFREE Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex. 22683681

2012

Entrez Id: 4233
Gene Symbol: MET
MET
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.060 GeneticVariation BEFREE Autism spectrum disorder: interaction of air pollution with the MET receptor tyrosine kinase gene. 24240654

2014

Entrez Id: 57575
Gene Symbol: PCDH10
PCDH10
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 GeneticVariation BEFREE Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations. 27179713

2016

Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 GeneticVariation BEFREE Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations. 27179713

2016

Entrez Id: 414
Gene Symbol: ARSD
ARSD
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.100 GeneticVariation BEFREE Autism spectrum disorder (ASD or autism) is a neurodevelopmental condition that affects over 1% of the population worldwide. 29496150

2018

Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 GeneticVariation BEFREE Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation. 30048823

2019

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.070 GeneticVariation BEFREE Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children. 30376831

2018

Entrez Id: 414
Gene Symbol: ARSD
ARSD
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.100 Biomarker BEFREE Autism Spectrum Disorder Decision Tree Subgroups Predict Adaptive Behavior and Autism Severity Trajectories in Children with ASD. 30511124

2019

Entrez Id: 2044
Gene Symbol: EPHA5
EPHA5
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 GeneticVariation BEFREE Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene. 30724859

2019

Entrez Id: 2898
Gene Symbol: GRIK2
GRIK2
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 GeneticVariation BEFREE Glutamate receptor 6 gene (GluR6 or GRIK2) polymorphisms in the Indian population: a genetic association study on autism spectrum disorder. 17712621

2007

Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.090 GeneticVariation BEFREE 5-HTTLPR polymorphism influences prefrontal neurochemical metabolites in autism spectrum disorder. 20619617

2010

Entrez Id: 54913
Gene Symbol: RPP25
RPP25
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 AlteredExpression BEFREE RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder. 20632321

2010

Entrez Id: 1815
Gene Symbol: DRD4
DRD4
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.310 Biomarker BEFREE DRD4 allelic variation may be a prognostic biomarker for challenging behaviors in children with autism spectrum disorder, but these exploratory findings remain tentative pending replication with larger independent samples. 20731709

2010

Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.100 Biomarker BEFREE CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering. 21108403

2010

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 GeneticVariation BEFREE Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model. 21908517

2011

Entrez Id: 1523
Gene Symbol: CUX1
CUX1
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 Biomarker BEFREE Cut-like homeobox 1 and nuclear factor I/B mediate ENGRAILED2 autism spectrum disorder-associated haplotype function. 22180456

2012

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.400 Biomarker BEFREE MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder. 22249109

2012

Entrez Id: 57555
Gene Symbol: NLGN2
NLGN2
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 Biomarker BEFREE NLGN2 may therefore be a novel candidate gene for mental retardation or autistic spectrum disorder, joining other members of the neurexin/neuroligin network. 22365944

2012

Entrez Id: 50944
Gene Symbol: SHANK1
SHANK1
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.070 Biomarker BEFREE SHANK1 Deletions in Males with Autism Spectrum Disorder. 22503632

2012

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.100 Biomarker BEFREE SHANK3 as an autism spectrum disorder-associated gene. 22749736

2013

Entrez Id: 1544
Gene Symbol: CYP1A2
CYP1A2
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 GeneticVariation BEFREE CYP1A2 polymorphisms in slow melatonin metabolisers: a possible relationship with autism spectrum disorder? 22823064

2013

Entrez Id: 1312
Gene Symbol: COMT
COMT
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 GeneticVariation BEFREE Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder. 23643763

2013

Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.030 Biomarker BEFREE Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) is associated with X-linked mental retardation and autism spectrum disorder. 23785489

2013

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 GeneticVariation BEFREE GRIN2B alterations, including mutation and gene disruption by apparently balanced chromosomal rearrangements, have been described in patients with intellectual disability and autism spectrum disorder. 23918416

2013