PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease CTD_human The aim of the present study was to investigate the genetic variations of PAX6 in two sporadic patients from southern China with classic congenital aniridia and cataract. 30221735 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.460 GeneticVariation disease BEFREE The aim of the present study was to investigate the genetic variations of PAX6 in two sporadic patients from southern China with classic congenital aniridia and cataract. 30221735 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease BEFREE Reported ocular and systemic abnormalities in these patients included cataract (6), aniridia (1), nasolacrimal duct block (1), and retinal breaks (1). 27977037 2017
CUI: C0086543
Disease: Cataract
Cataract 		0.460 GeneticVariation disease BEFREE PAX6 mutations were identified in two additional probands with aniridia and cataracts. 20806047 2010
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease BEFREE Blood was taken from the proband and his parents, genomic DNA was isolated and some candidate genes for cataract (CRYAA, CRYBB2, GJA8) or macular hypoplasia (OA1, P) or both (PAX6) were analyzed. 16453125 2006
CUI: C0086543
Disease: Cataract
Cataract 		0.460 GeneticVariation disease LHGDN A novel PAX6 gene mutation in a Chinese family with aniridia. 15889018 2005
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease BEFREE We conclude that these transgenic mice are good models to study a type of human cataract and for identifying batteries of genes that are directly or indirectly regulated by both forms of Pax-6. 10954416 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease HPO