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 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: 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 GeneticVariation disease BEFREE VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese. 30048854 2018
CUI: C0008924
Disease: Cleft upper lip
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
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease BEFREE Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate. 28771384 2017
CUI: C0008925
Disease: Cleft Palate
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
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: 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: C0810364
Disease: Cleft Lip with or without Cleft Palate
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
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
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
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
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
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: C1861537
Disease: OROFACIAL CLEFT 1
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
CUI: C1837218
Disease: Cleft palate, isolated
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