PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Microcornea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266544
Disease: Microcornea
Microcornea 		0.020 GeneticVariation disease BEFREE Mutations in paired box gene 6 (PAX6) are the major cause of aniridia that may be associated with several other developmental anomalies of the eye, including microcornea in rare cases. 25189681 2014
CUI: C0266544
Disease: Microcornea
Microcornea 		0.020 GeneticVariation disease BEFREE This study aims to detect PAX6 mutations in patients with microcornea. 22893676 2012