rs387907252, VAX1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MICROPHTHALMIA, SYNDROMIC 11
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
0.800 GeneticVariation UNIPROT 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
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
0.800 CausalMutation CLINVAR
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
0.010 GeneticVariation 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
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
0.010 GeneticVariation 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