PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Anophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.320 Biomarker disease BEFREE SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. 25542770 2015
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.320 Biomarker disease BEFREE A 2.2-Mb duplication of 3q29 in a patient with non-syndromic anophthalmia and an 877-kb duplication of 11p13 (PAX6) and a 1.4-Mb deletion of 17q11.2 (NF1) in two independent probands with syndromic microphthalmia and other ocular defects were identified; while ocular anomalies have been previously associated with 3q29 duplications, PAX6 duplications, and NF1 mutations in some cases, the ocular phenotypes observed here are more severe than previously reported. 23701296 2013
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.320 Biomarker disease GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230 1995