PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Disorder of the optic nerve ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.300 Biomarker group CTD_human Because PAX2 gene mutations were detected in papillorenal syndrome, alternation of PAX2 function by PAX6 mutations may affect phenotypic manifestations of optic-nerve malformations. 12721955 2003