Disease: Microphthalmia, Syndromic 3 ×
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