PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Retinal Detachment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.110 GeneticVariation disease BEFREE A novel PAX6 mutation causes congenital aniridia with or without retinal detachment. 30985247 2019
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.110 Biomarker disease HPO