PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Lens Opacities ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		0.300 Biomarker phenotype CTD_human Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. 30221735 2018