Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Microphthalmia, Syndromic 3
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
0.800 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
Microphthalmia, Syndromic 3
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
0.800 GeneticVariation UNIPROT Mutations in SOX2 cause anophthalmia. 12612584 2003
Microphthalmia, Syndromic 3
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
0.800 CausalMutation CLINVAR
Esophageal Atresia
CUI: C0014850
Disease: Esophageal Atresia
0.010 GeneticVariation BEFREE A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2. 16543359 2006