Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380 GeneticVariation group BEFREE We believe that our letter will add new knowledge to diabetes mellitus associated with PAX6 mutations and might help us to understand the role of PAX6 in beta-cell development. 30151985 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380 Biomarker group BEFREE A 484-630 kb deletion ∼120 kb distal to PAIRED BOX 6 (PAX6) showed dominant cosegregation with aniridia and diabetes in all affected family members. 30572005 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380 GeneticVariation group BEFREE To determine the ability of these elements to regulate gene expression, synthetic transcriptional activators and repressors were targeted to PE3 and PE4, modulating Pax6 gene expression, as well as influencing neighbouring genes and long non-coding RNAs, implicating the Pax6 locus in pancreas function and diabetes. 30007277 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380 Biomarker group BEFREE Expert opinion: Based on the current literature, we propose that future interventions to treat pancreatic neuroendocrine tumors and diabetes mellitus could be developed via the modulation of PAX4 and/or PAX6 regulated pathways. 27841034 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380 GeneticVariation group BEFREE PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia? 23566044 2013
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380 AlteredExpression group BEFREE Disturbed islet architecture has been proposed as the reason why mice with complete inactivation of paired box 6 (PAX6) in the pancreas develop diabetes. 19034419 2009
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380 GeneticVariation group BEFREE Here, we describe a case of PAX6 mutation with early-onset diabetes mellitus. 15842522 2005
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380 GeneticVariation group BEFREE Although we did not detect a mutation within the characterized portion of the PAX6 gene in one of the five aniridia patients, diabetes was cosegregated with aniridia in her family, and a single nucleotide polymorphism in intron 9 of the PAX6 gene was correlated with the disorders, suggesting that a mutation, possibly located in an uncharacterized portion of the PAX6 gene, can explain both diabetes and aniridia in this family. 11756345 2002
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380 Biomarker group GENOMICS_ENGLAND