PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003076
Disease: Aniridia
Aniridia
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
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker disease GENOMICS_ENGLAND Heterozygous defects in PAX6 gene and congenital hypopituitarism. 25342853 2015
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT The PAX6 mutation spectrum in Chinese aniridia patients is comparable to that reported in other ethnic groups. 21850189 2011
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker disease CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702 2008
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker disease GENOMICS_ENGLAND Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 17406642 2007
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 17595013 2007
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker disease GENOMICS_ENGLAND Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 17148041 2006
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Molecular analysis of a human PAX6 homeobox mutant. 16493447 2006
Irido-corneo-trabecular dysgenesis (disorder)
1.000 GermlineCausalMutation disease ORPHANET A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly. 15090434 2004
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. 12634864 2003
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Missense mutations in the DNA-binding region and termination codon in PAX6. 12552561 2003
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 11826019 2002
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 11309364 2001
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Congenital aniridia is due to deletions and point mutations in the PAX6 gene. 11553050 2001
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Mutation in the PAX6 gene in twenty patients with aniridia. 10737978 2000
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. 10234503 1999
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Here we present four novel PAX6 missense mutations, two in association with atypical phenotypes: ectopia pupillae (displaced pupils) and congenital nystagmus (searching gaze), and two in association with more recognizable aniridia phenotypes. 9931324 1999
Irido-corneo-trabecular dysgenesis (disorder)
1.000 GermlineCausalMutation disease ORPHANET The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia. 10441571 1999
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Ten novel mutations found in Aniridia. 9792406 1998
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT These missense mutations give rise to haploinsufficiency by another route, because the missense mutations presented here resulted in an aniridia phenotype indistinguishable from that caused by a heterozygous deletion of the entire PAX6 gene. 9856761 1998
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Functional analysis of paired box missense mutations in the PAX6 gene. 9147640 1997
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GermlineCausalMutation disease ORPHANET Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene. 9138149 1997
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GeneticVariation disease UNIPROT Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. 9281415 1997
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker disease GENOMICS_ENGLAND Three novel aniridia mutations in the human PAX6 gene. 7550230 1995