Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.070 GeneticVariation group BEFREE Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene. 31707209 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.070 GeneticVariation group BEFREE The wide variability of ocular phenotype regardless of the presence or absence of PAX6 mutations calls for a further appreciation of the complexity in the molecular diagnosis of aniridia and suggests that this ocular malformation may be better regarded as a group of heterogeneous disorders, rather than a single disease entity, associated with mutations in PAX6 and/or other genes located elsewhere in the human genome. 22361317 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.070 GeneticVariation group BEFREE We identified a novel PAX6 mutation in a family with severe ocular malformation. 22621390 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.070 GeneticVariation group BEFREE To identify novel mutation in the PAX6 (paired box gene 6) gene and characterize new clinical features of severe ocular malformation in a Chinese patient with Peters' anomaly. 20405024 2010
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.070 GeneticVariation group BEFREE This finding demonstrated that the frequency of PAX6 mutations associated with optic nerve malformation is low, requiring the elucidation of other candidate genes in other patients. 16604056 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.070 Biomarker group BEFREE PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. 11431688 2001
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.070 GeneticVariation group BEFREE Mutations of the human PAX6 gene underlie aniridia (congenital absence of the iris), a rare dominant malformation of the eye. 9931324 1999