PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Hydrophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 AlteredExpression disease BEFREE Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma. 20538882 2010
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 Biomarker disease HPO