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 		0.600 CausalMutation disease CLINVAR PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 29618921 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population. 27307692 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. 26849621 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR [Analysis of PAX6 gene mutation in a family affected with congenital aniridia]. 27455012 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 27431685 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Assessment of PAX6 alleles in 66 families with aniridia. 26661695 2016
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR A rare PAX6 mutation in a Chinese family with congenital aniridia. 26535646 2015
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families. 27081502 2014
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. 24737507 2014
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. 23761016 2013
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Aniridia. 22692063 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Mutation spectrum of PAX6 in Chinese patients with aniridia. 21850189 2011
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Genetic and genomic analysis of classic aniridia in Saudi Arabia. 21423868 2011
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR A case of aniridia with unilateral Peters anomaly. 21397818 2011
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations. 20577777 2010
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Eye anomalies and neurological manifestations in patients with PAX6 mutations. 19898691 2009
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR PAX6 aniridia and interhemispheric brain anomalies. 19862335 2009
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. 18483559 2008
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. 18241071 2008
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. 16712695 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 Biomarker disease GENOMICS_ENGLAND Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 17148041 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR A novel PAX6 gene mutation in a Chinese family with aniridia. 15889018 2005
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 CausalMutation disease CLINVAR Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms. 15579687 2004
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.600 GeneticVariation disease UNIPROT Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003