FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
Disease: Sclerocornea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		0.120 GeneticVariation disease BEFREE The sclerocornea-microphthalmia-aphakia complex is a severe malformative ocular phenotype resulting from mutations in the FOXE3 transcription factor. 29878917 2018
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		0.120 GeneticVariation disease BEFREE An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village. 24019743 2013
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		0.120 Biomarker disease HPO