Gene: PAX6 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.140 GeneticVariation disease BEFREE A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus. 25366758 2014
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.140 GeneticVariation disease BEFREE Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. 23942204 2014
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.140 Biomarker disease BEFREE In this study, we analyzed PAX6 in a Chinese pedigree of nystagmus, cataract and iris anomalies. 22025896 2011
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.140 GeneticVariation disease BEFREE To scrutinize the etiology of a four-generation Japanese family with autosomal dominant nystagmus associated with anterior and posterior segment anomalies, the PAX6 gene was examined. 10955655 2000
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.140 GeneticVariation disease CLINVAR
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.140 Biomarker disease HPO