PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: ANTERIOR SEGMENT DYSGENESIS 5 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 Biomarker disease GENOMICS_ENGLAND Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 17148041 2006
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 GeneticVariation disease UNIPROT Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 GeneticVariation disease UNIPROT Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. 10441571 1999
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 Biomarker disease GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230 1995
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 GeneticVariation disease UNIPROT Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. 8162071 1994
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.600 Biomarker disease GENOMICS_ENGLAND Photoreactivation of superoxide dismutase by intensive red (laser) light. 2855731 1988