rs757259413, PAX6

N. diseases: 2
Disease: Aniridia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Mutation spectrum of PAX6 in Chinese patients with aniridia. 21850189 2011
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 17595013 2007
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Molecular analysis of a human PAX6 homeobox mutant. 16493447 2006
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. 12634864 2003
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Missense mutations in the DNA-binding region and termination codon in PAX6. 12552561 2003
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 11826019 2002
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 11309364 2001
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. 11553050 2001
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Mutation in the PAX6 gene in twenty patients with aniridia. 10737978 2000
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. 10234503 1999
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 9931324 1999
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Missense mutations in the PAX6 gene in aniridia. 9856761 1998
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Ten novel mutations found in Aniridia. 9792406 1998
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. 9281415 1997
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT Functional analysis of paired box missense mutations in the PAX6 gene. 9147640 1997
Aniridia
CUI: C0003076
Disease: Aniridia
0.700 GeneticVariation UNIPROT PAX6 mutations in aniridia. 8364574 1993