OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Aniridia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 GeneticVariation disease BEFREE Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 17406642 2007