VAX1, ventral anterior homeobox 1, 11023

N. diseases: 25; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
MICROPHTHALMIA, SYNDROMIC 11 		0.700 Biomarker disease CTD_human
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
MICROPHTHALMIA, SYNDROMIC 11 		0.700 CausalMutation disease CLINVAR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.110 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C3553078
Disease: Agenesis of pineal gland
Agenesis of pineal gland 		0.100 Biomarker disease HPO
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
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
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
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
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
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
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0175754
Disease: Agenesis of corpus callosum
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
CUI: C0003119
Disease: Anophthalmos
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
CUI: C0001418
Disease: Adenocarcinoma
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
CUI: C0007137
Disease: Squamous cell carcinoma
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
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 PosttranslationalModification disease BEFREE In addition, the methylation of VAX1 and LMX1A was found to be associated with BC recurrence. 22529986 2012
CUI: C0005695
Disease: Bladder Neoplasm
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
CUI: C0699885
Disease: Carcinoma of bladder
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
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.010 Biomarker disease BEFREE Furthermore, we are able to confirm previous results that the Vax1 gene is involved in Septo-Optic Dysplasia and suggest Gdf6 and Marcks as further potential candidates. 22719993 2012
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
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
CUI: C0000768
Disease: Congenital Abnormality
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
CUI: C0220810
Disease: Congenital defects
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