|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
Aniridia
|
1.000 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
WAGR Syndrome
|
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
Congenital ocular coloboma (disorder)
|
0.750 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
Coloboma of optic disc
|
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
Optic Nerve Hypoplasia, Bilateral
|
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
Keratitis, hereditary
|
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.
|
29618921 |
2018 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
|
28321846 |
2017 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.
|
27307692 |
2016 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
|
26849621 |
2016 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
[Analysis of PAX6 gene mutation in a family affected with congenital aniridia].
|
27455012 |
2016 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.
|
27431685 |
2016 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Assessment of PAX6 alleles in 66 families with aniridia.
|
26661695 |
2016 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
A rare PAX6 mutation in a Chinese family with congenital aniridia.
|
26535646 |
2015 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.
|
27081502 |
2014 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia.
|
24737507 |
2014 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.
|
23761016 |
2013 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Aniridia.
|
22692063 |
2012 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Mutation spectrum of PAX6 in Chinese patients with aniridia.
|
21850189 |
2011 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Genetic and genomic analysis of classic aniridia in Saudi Arabia.
|
21423868 |
2011 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
A case of aniridia with unilateral Peters anomaly.
|
21397818 |
2011 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations.
|
20577777 |
2010 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
|
19898691 |
2009 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
PAX6 aniridia and interhemispheric brain anomalies.
|
19862335 |
2009 |
|
| Entrez Id: |
5080 |
| Gene Symbol: |
PAX6 |
PAX6
|
ANTERIOR SEGMENT DYSGENESIS 5
|
0.600 |
CausalMutation |
CLINVAR |
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.
|
18483559 |
2008 |