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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.530 Biomarker disease CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008