Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations. 31734509 2020
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 Biomarker disease BEFREE Targeted sequencing of known cardiomyopathy genes in the index patient identified a second mutation, a 1.7 Mp deletion that spans the <i>MYBPC3</i> gene.<b>Conclusions</b>: We report a pedigree with aniridia and other systemic abnormalities that were initially suspicious for a contiguous-gene syndrome like WAGR. 31361967 2020
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 Biomarker disease BEFREE Most classical aniridia is caused by PAX6 haploinsufficiency. 31700164 2020
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 Biomarker disease BEFREE PAX6-related Aniridia is a sight-threatening disease involving progression of secondary glaucoma and aniridia related keratopathy (ARK). 30292490 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE A novel deletion in the PAX6 gene was identified in a Chinese family associated with aniridia, which expands the spectrum of the PAX6 mutation and its associated phenotype. 30621664 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 Biomarker disease BEFREE This study describes detailed clinical findings, including videonystagmography and fundus photography findings and emphasizes the importance of screening for the PAX6 gene in patients who present with CN in the absence of aniridia, as this will further elucidate the known phenotypes of PAX6-related diseases. 30986449 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE Our previous study of congenital aniridia patients revealed a noticeable number of aniridia patients with WAGR-region deletions but without Wilms' tumor in their medical history. 31304537 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE Case of a novel PAX6 mutation with aniridia and insulin-dependent diabetes mellitus. 30151985 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE Most cases of aniridia are inherited with an autosomal dominant mode of inheritance caused by PAX6 mutations or deletions. 30985247 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE In the present study we used the minigene assay to analyze the functional consequences of six intronic (c.142-5T>G, c.142-14C>G, c.142-64A>C, c.141+4A>G, c.1032+ 6T>G, c.682+4delA), one missense (c.140A>G) and one synonymous (c.174C>T) variants in the PAX6 gene found in patients with congenital aniridia. 30315214 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease 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
1.000 Biomarker disease BEFREE The small eye (Sey) mouse is a model of PAX6-aniridia syndrome (aniridia). 30258099 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome. 29343077 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE A novel deletion mutation was identified within the PAX6 downstream region that results in congenital aniridia. 29902091 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation. 29901133 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE Heterozygous PAX6 gene mutations leading to haploinsufficiency are the main cause of congenital aniridia, a rare and progressive panocular disease characterized by reduced visual acuity. 29808941 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE In particular, we have taken advantage of the development of high-throughput approaches to screen the upstream and downstream regulatory regions of PAX6 in 47 aniridia patients without identified mutation in the coding sequence. 30291432 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE The three frameshift mutations of PAX6 are co-segregated with the aniridia from controls in the families, but the novel missense mutation is not co-segregated with the phenotype. 30334364 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 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
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 Biomarker disease BEFREE 11 p. 13), but PAX6-associated aniridia is a profound, progressive pan-ocular developmental disorder often leading to blindness. 28906020 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE The spectrum of symptoms associated with aniridia is due to haploinsufficiency of the paired box 6 gene (PAX6) and its role in the development and maintenance of the affected tissues. 30290306 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 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
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 AlteredExpression disease BEFREE We identified decreased PAX6 protein levels in aniridia patients in addition to decreased K12 mRNA levels compared to control cells. 29162348 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 Biomarker disease BEFREE In order to develop a new tool to analyze aniridia and WAGR subjects, a CGH array (CGHa) of the PAX6 genomic region was set up. 27919838 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
1.000 GeneticVariation disease BEFREE Here, we used nonsense suppression to manipulate Pax6 dosage at different developmental times in the eye of the small eye (Pax6<sup>Sey/+</sup>; G194X) mouse model of aniridia. 28624217 2017