|
MICROPHTHALMIA, SYNDROMIC 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
|
22095910 |
2012 |
|
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 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 |
|
Microphthalmos
|
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 |
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 |
|
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, 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 |
|
OROFACIAL CLEFT 1
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Recent whole genome analyses suggested associations between nonsyndromic orofacial cleft and up to 18 genetic risk loci (ABCA4, BMP4, CRISPLD2, GSTT1, FGF8, FGFR2, FOXE1, IRF6, MAFB, MSX1, MTHFR, MYH9, PDGFC, PVRL1, SUMO1, TGFA, TGFB3, and VAX1), each of which confers a different relative risk in different populations.
|
27527345 |
2016 |
|
OROFACIAL CLEFT 1
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients.
|
30633559 |
2019 |
|
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 |
|
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 |
|
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 |
|
Squamous cell carcinoma
|
0.010 |
GeneticVariation
|
disease |
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 |
|
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 |
|
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 |
|
MICROPHTHALMIA, SYNDROMIC 11
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
MICROPHTHALMIA, SYNDROMIC 11
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
|
22095910 |
2012 |
|
MICROPHTHALMIA, SYNDROMIC 11
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
|
22095910 |
2012 |
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Cleft upper lip
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
|
Microphthalmos
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|