PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Axenfeld-Rieger Syndrome, Type 1 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714873
Disease: Axenfeld-Rieger Syndrome, Type 1
Axenfeld-Rieger Syndrome, Type 1 		0.300 Biomarker disease CTD_human Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. 14630904 2003