Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Aniridia
|
0.700 | GeneticVariation | UNIPROT | Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. | 24033328 | 2014 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | Mutation spectrum of PAX6 in Chinese patients with aniridia. | 21850189 | 2011 | |||||
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
|
0.700 | GeneticVariation | UNIPROT | Molecular analysis of a human PAX6 homeobox mutant. | 16493447 | 2006 | |||||
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
|
0.700 | GeneticVariation | UNIPROT | Missense mutations in the DNA-binding region and termination codon in PAX6. | 12552561 | 2003 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. | 11826019 | 2002 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. | 11309364 | 2001 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. | 11553050 | 2001 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | Mutation in the PAX6 gene in twenty patients with aniridia. | 10737978 | 2000 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. | 10234503 | 1999 | |||||
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
|
0.700 | GeneticVariation | UNIPROT | Missense mutations in the PAX6 gene in aniridia. | 9856761 | 1998 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | Ten novel mutations found in Aniridia. | 9792406 | 1998 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. | 9281415 | 1997 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | Functional analysis of paired box missense mutations in the PAX6 gene. | 9147640 | 1997 | |||||
Aniridia
|
0.700 | GeneticVariation | UNIPROT | PAX6 mutations in aniridia. | 8364574 | 1993 | |||||
Aniridia type 1
|
0.700 | GeneticVariation | CLINVAR |