PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Hereditary macular coloboma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		0.300 GermlineCausalMutation disease ORPHANET PAX6 missense mutations associated in patients with optic nerve malformation. 16604056 2006
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		0.300 GermlineCausalMutation disease ORPHANET Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003