Aniridia
|
0.430 |
Biomarker
|
disease |
BEFREE |
Although mutations in PAX6 are a major cause of aniridia, genetic defects in nearby genes, such as TRIM44 or ELP4, have also been reported to cause aniridia.
|
28598868 |
2017 |
Aniridia
|
0.430 |
Biomarker
|
disease |
BEFREE |
The possible role of PAXNEB in aniridia was assessed.
|
11889558 |
2002 |
Aniridia
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11.
|
2347591 |
1990 |
Aniridia
|
0.430 |
Biomarker
|
disease |
HPO |
|
|
|
Aniridia
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Aniridia
|
0.430 |
Biomarker
|
disease |
CTD_human |
|
|
|
Aniridia type 2
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.
|
29217025 |
2017 |
Aniridia type 2
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
|
24290376 |
2013 |
Aniridia type 2
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
The conserved linkage of the cloned markers and the similarity of the Sey/+ and AN2/+ phenotypes suggest that the gene involved in the Sey mutation is the mouse homolog of the human AN2 gene.
|
2347591 |
1990 |
Gastrointestinal Stromal Tumors
|
0.300 |
Biomarker
|
group |
CTD_human |
Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression.
|
27793025 |
2016 |
Gastrointestinal Stromal Sarcoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression.
|
27793025 |
2016 |
WAGR Syndrome
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11.
|
2347591 |
1990 |
WAGR Syndrome
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Anxiety
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
|
29942085 |
2018 |
Aniridia type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.
|
29618921 |
2018 |
ANTERIOR SEGMENT DYSGENESIS 5
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.
|
29618921 |
2018 |
Aniridia type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
|
28321846 |
2017 |
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
|
28892062 |
2017 |
ANTERIOR SEGMENT DYSGENESIS 5
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
|
28321846 |
2017 |
Aniridia type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.
|
27431685 |
2016 |
ANTERIOR SEGMENT DYSGENESIS 5
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.
|
27431685 |
2016 |
Glaucoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.
|
25027321 |
2014 |
Aniridia type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Missense mutations in the DNA-binding region and termination codon in PAX6.
|
12552561 |
2003 |
ANTERIOR SEGMENT DYSGENESIS 5
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Missense mutations in the DNA-binding region and termination codon in PAX6.
|
12552561 |
2003 |
Aniridia type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
|
11309364 |
2001 |