EN2, engrailed homeobox 2, 2020

N. diseases: 41; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease BEFREE Here we sought to investigate the anatomy and function of the adult retina of Engrailed 2 knockout (En2<sup>-/-</sup>) mice, a model for ASD. 30980901 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease BEFREE As such, En2<sup>-/-</sup> mice display the behavioral deficits and neural impairments characteristic of the core symptoms associated with autism spectrum disorder (ASD). 29953887 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease BEFREE Accordingly, mice lacking the En2 homeodomain (En2<sup>hd/hd</sup>, referred to as En2<sup>-/-</sup>) show molecular, anatomical and behavioral "ASD-like" features. 29964155 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease BEFREE Recently, HCMV infection and engrailed-2 have been reported to be related to the autism spectrum disorder (ASD). 28343438 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease BEFREE Our findings suggest that the arginine variant of the EN2 protein may play an important role in the pathology of ASD. 27755371 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease CTD_human Elevated 5-hydroxymethylcytosine in the Engrailed-2 (EN-2) promoter is associated with increased gene expression and decreased MeCP2 binding in autism cerebellum. 25290267 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease BEFREE Candidate gene approach also suggested association of EN2 with autism spectrum disorder (ASD) in various populations. 20050924 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease BEFREE Further support that EN2 is a possible ASD susceptibility gene requires the identification of a risk allele, a DNA variant that is consistently associated with ASD but is also functional. 19615670 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease BEFREE Together, these data provide further genetic evidence that EN2 might act as an ASD susceptibility locus, and they suggest that a risk allele that perturbs the spatial/temporal expression of EN2 could significantly alter normal brain development. 16252243 2005
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 AlteredExpression disease BEFREE Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. 15024396 2004
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.590 Biomarker disease MGD
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 GeneticVariation disease BEFREE Retinal defects in mice lacking the autism-associated gene Engrailed-2. 30980901 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 PosttranslationalModification disease BEFREE We previously reported EN-2 overexpression associated with promoter DNA hypermethylation in the autism cerebellum but because traditional DNA methylation methodology cannot distinguish 5-methylcytosine (5-mC) from 5-hmC, we now extend our investigation by quantifying global and gene-specific 5-mC and 5-hmC. 25290267 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker disease BEFREE Together, these results suggest that the normal EN-2 downregulation that signals Purkinje cell maturation during late prenatal and early-postnatal development may not have occurred in some individuals with autism and that the postnatal persistence of EN-2 overexpression may contribute to autism cerebellar abnormalities. 23423141 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 GeneticVariation disease BEFREE Additionally, the WNT2 gene and EN2 gene may act in concert to influence the language development in autism. 22522212 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 GeneticVariation disease BEFREE Linkage analysis and studies on knockout mice support EN2, located on chromosome 7q36.3, as a potential risk locus for autism. 20050924 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 GeneticVariation disease BEFREE Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population. 20523082 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker disease CTD_human Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population. 20523082 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker disease CTD_human Increased susceptibility to kainic acid-induced seizures in Engrailed-2 knockout mice. 19186208 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 GeneticVariation disease BEFREE To investigate whether this finding could be replicated in Chinese Han population, we performed the association study between eight single nucleotide polymorphisms (SNPs) of the EN2 gene and autism in 210 Chinese Han trios, using the family-based association test (FBAT). 17948901 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 GeneticVariation disease BEFREE Studies investigating association between markers at EN2 (chr7q36), a location associated with language disorders, and autism reveal mixed findings. 17948868 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker disease BEFREE Both the UNPHASE and PHASE statistical programs were utilized for evaluating the association of EN2 SNPs with autism based on allelic and genotypic frequencies and haplotype compositions accompanied with the goodness-of-fit method of the chi(2) test. 18424904 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker disease CTD_human En2 knockout mice display neurobehavioral and neurochemical alterations relevant to autism spectrum disorder. 16935268 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker disease BEFREE From this body of work we highlight results from three candidate genes, REELIN (RELN), SEROTONIN TRANSPORTER (5HTT), and ENGRAILED 2 (EN2) and discuss the relevant neuroscience, molecular genetics, and statistical results that suggest involvement of these genes in autism susceptibility. 15749247 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 GeneticVariation disease BEFREE Our previous research involving 167 nuclear families from the Autism Genetic Resource Exchange (AGRE) demonstrated that two intronic SNPs, rs1861972 and rs1861973, in the homeodomain transcription factor gene ENGRAILED 2 (EN2) are significantly associated with autism spectrum disorder (ASD). 16252243 2005