PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Foster-Kennedy Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152112
Disease: Foster-Kennedy Syndrome
Foster-Kennedy Syndrome 		0.300 Biomarker disease CTD_human Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003