FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
Disease: ANTERIOR SEGMENT DYSGENESIS 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.500 Biomarker disease GENOMICS_ENGLAND The genetic architecture of microphthalmia, anophthalmia and coloboma. 24859618 2014
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.500 Biomarker disease GENOMICS_ENGLAND A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. 21150893 2011
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.500 GermlineCausalMutation disease ORPHANET A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. 21150893 2011
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.500 Biomarker disease GENOMICS_ENGLAND Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene. 3550563 1986
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		0.500 Biomarker disease GENOMICS_ENGLAND