FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
Disease: Aniridia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003076
Disease: Aniridia
Aniridia 		0.110 GeneticVariation disease BEFREE Another novel FOXE3 sequence change, c.571-579dup (p.Tyr191_Pro193dup), was identified in a patient with aniridia, mild lens opacities, and some additional ocular defects; this patient was also found to carry a nonsense mutation in PAX6. 20806047 2010
CUI: C0003076
Disease: Aniridia
Aniridia 		0.110 Biomarker disease HPO