PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Optic Nerve Hypoplasia, Bilateral ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 Biomarker disease GENOMICS_ENGLAND Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 17148041 2006
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 GeneticVariation disease UNIPROT Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 Biomarker disease GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230 1995
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 Biomarker disease GENOMICS_ENGLAND Photoreactivation of superoxide dismutase by intensive red (laser) light. 2855731 1988
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 Biomarker disease CTD_human