PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Congenital anomaly of anterior segment of eye ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		0.030 GeneticVariation disease BEFREE The association of anterior segment anomalies and foveal hypoplasia with one of the slightest alterations of the PAX6 protein described to date confirms the association of variant phenotypes with hypomorphic alleles. 15629294 2004
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		0.030 GeneticVariation disease BEFREE Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies. 9538891 1998
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		0.030 GeneticVariation disease BEFREE We therefore propose that a variety of anterior segment anomalies may be associated with PAX6 mutations. 8162071 1994