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 MGD
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.010 AlteredExpression disease BEFREE We then generated transgenic mice expressing human Pax5 under control of the Engrailed-2 promoter, which is expressed in the cerebellar external granule cell layer and in medulloblastomas. 11477548 2001
CUI: C0266470
Disease: Cerebellar Hypoplasia
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
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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation disease LHGDN Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. 15024396 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 Biomarker disease CTD_human Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. 15024396 2004
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.030 AlteredExpression group BEFREE Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. 15024396 2004
CUI: C0036341
Disease: Schizophrenia
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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET We found no significant association of schizophrenia with this bi-nucleotide repeat polymorphism of the EN2 gene. 15123388 2004
CUI: C0000768
Disease: Congenital Abnormality
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
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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 AlteredExpression group LHGDN EN2 is a candidate oncogene in human breast cancer. 16007149 2005
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: 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
CUI: C0524528
Disease: Pervasive Development Disorder
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
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 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: C0023015
Disease: Language Disorders
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
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 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 Increased susceptibility to kainic acid-induced seizures in Engrailed-2 knockout mice. 19186208 2009
CUI: C4275179
Disease: Young onset Parkinson disease
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
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 Candidate gene approach also suggested association of EN2 with autism spectrum disorder (ASD) in various populations. 20050924 2010
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