OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Butterfly-shaped pigmentary macular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		0.300 GermlineCausalMutation disease ORPHANET OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. 25293953 2014