|
Adenocarcinoma
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Using sodium-bisulfite-based approaches, 12 CpG islands (associated with the BARHL2, EVX2, IRX2, MEIS1, MSX1, NR2E1, OC2, OSR1, OTX1, PAX6, TFAP2A, and ZNF577 genes) were confirmed to be methylated in 85% to 100% of the squamous cell carcinomas and 11 CpG islands (associated with the CHAD, DLX4, GRIK2, KCNG3, NR2E1, OSR1, OTX1, OTX2, PROX1, RUNX1, and VAX1 genes) were methylated in >80% of the adenocarcinomas.
|
22143938 |
2012 |
|
Agenesis of corpus callosum
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>A and c.454C>A, predicting p.Arg152Ser, in a proband of Egyptian origin with microphthalmia, small optic nerves, cleft lip/palate, and corpus callosum agenesis.
|
22095910 |
2012 |
|
Agenesis of corpus callosum
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Agenesis of pineal gland
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Anophthalmos
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia (A/M).
|
22095910 |
2012 |
|
Bladder Neoplasm
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
In addition, the methylation of VAX1 and LMX1A was found to be associated with BC recurrence.
|
22529986 |
2012 |
|
Carcinoma of bladder
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
In addition, the methylation of VAX1 and LMX1A was found to be associated with BC recurrence.
|
22529986 |
2012 |
|
Cleft lip or lips
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese.
|
30048854 |
2018 |
|
Cleft Lip with or without Cleft Palate
|
0.040 |
Biomarker
|
disease |
BEFREE |
Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
|
23081944 |
2012 |
|
Cleft Lip with or without Cleft Palate
|
0.040 |
Biomarker
|
disease |
BEFREE |
Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate.
|
23679094 |
2013 |
|
Cleft Lip with or without Cleft Palate
|
0.040 |
Biomarker
|
disease |
BEFREE |
Our study replicated previous GWAS findings for markers in VAX1 in the Asian population, and identified rare variants in PAX7 and VAX1 that may contribute to the etiology of CL(P).
|
23463464 |
2013 |
|
Cleft Lip with or without Cleft Palate
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China.
|
28383424 |
2017 |
|
Cleft Palate
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cleft Palate
|
0.110 |
Biomarker
|
disease |
BEFREE |
Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate.
|
28771384 |
2017 |
|
Cleft Palate
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.
|
28232668 |
2017 |
|
Cleft palate with cleft lip
|
0.010 |
Biomarker
|
disease |
BEFREE |
After correcting for multiple testing, we observed significant associations between fetal single-nucleotide polymorphisms (SNPs) at IRF6, PAX7, 8q21.3, 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP).
|
28662356 |
2017 |
|
Cleft palate, isolated
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, with targeted deletion in mice associated with multiple anomalies, including disruption of the visual apparatus and basal forebrain, lobar holoprosencephaly, and CP.
|
28771384 |
2017 |
|
Cleft palate, isolated
|
0.020 |
Biomarker
|
disease |
BEFREE |
Human genotype-phenotype analysis revealed that variants in five human homologous CP genes (IRF6, FOXE1, VAX1, WNT9B, and GAD1) significantly contributed to the human CP phenotype.
|
29475039 |
2018 |
|
Cleft upper lip
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese.
|
30048854 |
2018 |
|
Cleft upper lip
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.
|
28232668 |
2017 |
|
Cleft upper lip
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
One gene at 10q25.3, the ventral anterior homeobox 1 (VAX1) gene, is considered a strong candidate gene for craniofacial malformations.
|
23081944 |
2012 |
|
Congenital defects
|
0.010 |
Biomarker
|
group |
BEFREE |
To determine whether VAX1 is the causative gene at 10q25.3 further research, in particular into the biologic function of its long isoform, is warranted.Birth Defects Research (Part A), 2012.
|
23081944 |
2012 |
|
Congenital ocular coloboma (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1.
|
24859618 |
2014 |
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|