PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract
0.460 Biomarker disease CTD_human The aim of the present study was to investigate the genetic variations of PAX6 in two sporadic patients from southern China with classic congenital aniridia and cataract. 30221735 2018