|
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 |
|
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 |
|
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.
|
15024396 |
2004 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Retinal defects in mice lacking the autism-associated gene Engrailed-2.
|
30980901 |
2019 |
|
Schizophrenia
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We found no significant association of schizophrenia with this bi-nucleotide repeat polymorphism of the EN2 gene.
|
15123388 |
2004 |
|
Neoplasms
|
0.070 |
GeneticVariation
|
group |
BEFREE |
The methylation status of the EN2 gene was revealed to be associated with histological grade and tumor size in cc-RCC.
|
29151918 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, re-activation of the EN2 gene markedly inhibited the proliferative and invasive capacities of cc-RCC.
|
29151918 |
2017 |
|
Pervasive Development Disorder
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus.
|
16252243 |
2005 |
|
Pervasive Development Disorder
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Whole-exome sequencing identifies a novel heterozygous missense variant of the EN2 gene in two unrelated patients with autism spectrum disorder.
|
27755371 |
2016 |
|
Language Disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Studies investigating association between markers at EN2 (chr7q36), a location associated with language disorders, and autism reveal mixed findings.
|
17948868 |
2008 |
|
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Involvement of the EN-2 gene in normal and abnormal development of the human arcuate nucleus.
|
15676030 |
2005 |
|
Retinal defect
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Retinal defects in mice lacking the autism-associated gene Engrailed-2.
|
30980901 |
2019 |
|
Cerebellar Hypoplasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We speculate that in the human, the failure to form a mesencephalon and metencephalon, with cerebellar hypoplasia, results from a mutation or deletion in the EN2 (Engrailed-2) gene.
|
11815869 |
2002 |
|
Neurodevelopmental Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Autism is a neurodevelopmental disorder with a strong genetic background that has been suggested to be associated with a susceptibility gene, engrailed homeobox 2(EN2), which maps to chromosome 7q36.
|
20523082 |
2010 |
|
Young onset Parkinson disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Altogether, our data suggest the possibility that variations of the engrailed-2 gene are implicated in the development of YOPD, although our results with respect to SNP rs1345514 should be verified in an independent sample.
|
19270442 |
2009 |
|
Autism Spectrum Disorders
|
0.590 |
Biomarker
|
disease |
MGD |
|
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |