OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.020 Biomarker group BEFREE The retinal disease resembles conditional mice models that show slow photoreceptor degeneration secondary to loss of Otx2 function in the adult RPE. 25293953 2014
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.020 GeneticVariation group BEFREE Many direct Otx2 target genes are associated with human retinopathies, emphasizing the significance of the model. 23761884 2013