PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Coloboma of optic disc ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 GermlineCausalMutation disease ORPHANET PAX6 missense mutations associated in patients with optic nerve malformation. 16604056 2006
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 Biomarker disease GENOMICS_ENGLAND Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 17148041 2006
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 GermlineCausalMutation disease ORPHANET Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 GeneticVariation disease UNIPROT Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 Biomarker disease GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230 1995
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 Biomarker disease GENOMICS_ENGLAND Photoreactivation of superoxide dismutase by intensive red (laser) light. 2855731 1988
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.710 Biomarker disease CTD_human