EN2, engrailed homeobox 2, 2020

N. diseases: 41; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.070 GeneticVariation BEFREE Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach. 20050924 2010
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.070 GeneticVariation BEFREE The haplotype A-C of rs1861972 and rs1861973 is the core element of the observed haplotype association in this study, which plays a role as a protective factor against autism; in addition, the haplotype G-A-C is less frequent in male cases compared to controls (38.64 vs. 52.51%), which plausibly modulate disease vulnerability to autism. 20523082 2010
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.070 GeneticVariation BEFREE Two SNPs (rs1861972, rs1861973) at the EN2 gene that have been reported to be associated with autism underwent analysis among our studied cohorts. 18424904 2008
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.070 GeneticVariation BEFREE Two recent studies have demonstrated that two intronic SNPs (rs1861972, rs1861973) in the EN2 gene are significantly associated with autism. 17948901 2008
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.070 GeneticVariation BEFREE Since the associated SNPs were in high linkage disequilibrium and shared similar minor allele frequencies, we chose to test whether one of the SNPs (rs1861972) was associated with autism in three recruiting sites from the NIH Collaborative Programs of Excellence in Autism (CPEA) network. 17948868 2008
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.070 GeneticVariation 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
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.070 GeneticVariation BEFREE Two intronic SNPs (rs1861972 and rs1861973) demonstrated significant association with autism (rs1861972, P=0.0018; rs1861973, P=0.0003; haplotype, P=0.000005). 15024396 2004
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.060 GeneticVariation BEFREE Subsequent molecular analysis determined that the EN2 ASD-associated haplotype (rs1861972-rs1861973 A-C) functions as a transcriptional activator to increase gene expression. 24520327 2014
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.060 GeneticVariation BEFREE Previously we demonstrated that an intronic haplotype (rs1861972-rs1861973 A-C) in the homeobox transcription factor ENGRAILED2 (EN2) is significantly associated with ASD. 22180456 2012
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.060 GeneticVariation BEFREE Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach. 20050924 2010
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.060 GeneticVariation BEFREE The haplotype A-C of rs1861972 and rs1861973 is the core element of the observed haplotype association in this study, which plays a role as a protective factor against autism; in addition, the haplotype G-A-C is less frequent in male cases compared to controls (38.64 vs. 52.51%), which plausibly modulate disease vulnerability to autism. 20523082 2010
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.060 GeneticVariation BEFREE While Del-T haplotype formed from rs34808376-rs1861973 markers showed increased non-transmission, the Ins-C showed significant transmission suggesting protective effect and risk, respectively, conferred by these haplotypes in autism etiology. 20050924 2010
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.060 GeneticVariation BEFREE Although our findings were not as robust as the previous studies, they suggest that rs1861972 may influence the risk for autism spectrum disorders. 17948868 2008
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.060 GeneticVariation BEFREE Two recent studies have demonstrated that two intronic SNPs (rs1861972, rs1861973) in the EN2 gene are significantly associated with autism. 17948901 2008
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.060 GeneticVariation BEFREE Two SNPs (rs1861972, rs1861973) at the EN2 gene that have been reported to be associated with autism underwent analysis among our studied cohorts. 18424904 2008
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.060 GeneticVariation 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
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.060 GeneticVariation 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
dbSNP: rs1861972
rs1861972
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.060 GeneticVariation BEFREE This analysis was then extended to include 167 small nuclear ASD pedigrees and significant association was again only observed for rs1861972 and rs1861973 under both the narrow and broad diagnostic criteria (narrow: rs1861972 P=0.0290, rs1861973 P=0.0073, haplotype P=0.0009; broad: rs1861972 P=0.0175, rs1861973 P=0.0107, haplotype P=0.0024). 15024396 2004
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C0004352
Disease:
Autistic Disorder
0.060 GeneticVariation BEFREE Two intronic SNPs (rs1861972 and rs1861973) demonstrated significant association with autism (rs1861972, P=0.0018; rs1861973, P=0.0003; haplotype, P=0.000005). 15024396 2004
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.040 GeneticVariation BEFREE Subsequent molecular analysis determined that the EN2 ASD-associated haplotype (rs1861972-rs1861973 A-C) functions as a transcriptional activator to increase gene expression. 24520327 2014
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.040 GeneticVariation BEFREE Previously we demonstrated that an intronic haplotype (rs1861972-rs1861973 A-C) in the homeobox transcription factor ENGRAILED2 (EN2) is significantly associated with ASD. 22180456 2012
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.040 GeneticVariation BEFREE Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach. 20050924 2010
dbSNP: rs1861973
rs1861973
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.040 GeneticVariation 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
dbSNP: rs3735653
rs3735653
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.020 GeneticVariation BEFREE Here, we have investigated the association of five markers [rs3735653 (C/T) in exon 1; rs34808376 (GC/-) and rs6150410 (CGCATCCCC/-) in promoter region; rs1861972 (A/G) and rs1861973 (C/T) in the intron] of the gene with autism and ASD in Indian population using family-based approach. 20050924 2010
dbSNP: rs3735653
rs3735653
Entrez Id: 2020
Gene Symbol: EN2
EN2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.020 GeneticVariation BEFREE To investigate EN2 for evidence of association with ASD, four single-nucleotide polymorphisms (SNPs) (rs3735653, rs1861972, rs1861973, rs2361689) that span the majority of the 8.0 kb gene were assessed by the transmission/disequilibrium test. 15024396 2004