PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Anophthalmos ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.320 Biomarker disease GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230 1995