OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.410 GeneticVariation group BEFREE A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. 19956411 2009
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.410 Biomarker group GENOMICS_ENGLAND
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.410 Biomarker group HPO