PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Intellectual Disability ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008