AMYOTROPHIC LATERAL SCLEROSIS 23
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.
|
29845112 |
2018 |
AMYOTROPHIC LATERAL SCLEROSIS 23
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
|
28469040 |
2017 |
AMYOTROPHIC LATERAL SCLEROSIS 23
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Sarcoidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analyzed associations between sarcoidosis clinical course and HLA class I/II alleles and susceptibility gene SNPs ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A in a Portuguese population, investigating possible gene-gene interactions.
|
27662826 |
2018 |
Sarcoidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Annexin A11 is one of the oldest vertebrate annexins that has a crucial role in sarcoidosis pathogenesis.
|
27071553 |
2016 |
Sarcoidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Annexin A11 is associated with pulmonary fibrosis in African American patients with sarcoidosis.
|
28079857 |
2016 |
Sarcoidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ANXA11 SNP rs2573346 and rs2789679 T allele conferred protection against sarcoidosis (OR: 0.664, 95% CI: 0.607-0.726 for rs2573346, and OR: 0.698, 95% CI: 0.640-0.762 for rs2789679).
|
27537711 |
2016 |
Sarcoidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Statistically significant differences were found in the allelic or genotypic frequencies of the rs2789679, rs1049550 and rs2819941 in the ANXA11 gene between patients with sarcoidosis and controls.
|
25056970 |
2014 |
Sarcoidosis
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
|
22936702 |
2013 |
Sarcoidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Given the role of annexin A11 in cell division, apoptosis and neutrophil function, this polymorphism may affect key elements of granulomatous and interstitial inflammation in sarcoidosis.
|
24032725 |
2013 |
Sarcoidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
This further genetic dissection of ANXA11 may provide additional insight into the immune dysregulation characteristic of sarcoidosis pathophysiology.
|
23151485 |
2013 |
Sarcoidosis
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
|
22936702 |
2013 |
Sarcoidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Variants originally associated with juvenile idiopathic arthritis (VTCN1 gene), sarcoidosis (ANXA11 gene), primary biliary cirrhosis (IL12RB2 gene) and celiac disease (LPP gene) were not associated with type 1 diabetes in our dataset.
|
23152861 |
2012 |
Sarcoidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, ANXA11 rs1049550 single nucleotide polymorphism is the susceptibility marker in sarcoidosis, at least in Caucasians.
|
21562576 |
2011 |
Sarcoidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.
|
19165924 |
2008 |
Sarcoidosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.
|
19165924 |
2008 |
Sarcoidosis
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.
|
19165924 |
2008 |
Amyotrophic Lateral Sclerosis
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of ANXA11 protein-coding exons was performed in a Chinese cohort of 434 patients with sporadic ALS and 50 index patients with familial ALS.
|
30337194 |
2019 |
Amyotrophic Lateral Sclerosis
|
0.440 |
Biomarker
|
disease |
BEFREE |
Thus, ANXA11 mediates neuronal RNA transport by tethering RNA granules to actively-transported lysosomes, performing a critical cellular function that is disrupted in ALS.
|
31539493 |
2019 |
Amyotrophic Lateral Sclerosis
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that pathogenic ANXA11 mutations are absent or rare in ALS patients in Taiwan.
|
30054183 |
2018 |
Amyotrophic Lateral Sclerosis
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Annexin A11-positive protein aggregates were abundant in spinal cord motor neurons and hippocampal neuronal axons in an ALS patient carrying the p.D40G mutation.
|
28469040 |
2017 |
Amyotrophic Lateral Sclerosis
|
0.440 |
GermlineCausalMutation
|
disease |
ORPHANET |
Annexin A11-positive protein aggregates were abundant in spinal cord motor neurons and hippocampal neuronal axons in an ALS patient carrying the p.D40G mutation.
|
28469040 |
2017 |
Amyotrophic Lateral Sclerosis
|
0.440 |
Biomarker
|
disease |
HPO |
|
|
|
Coronary Artery Disease
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Large-scale association analysis identifies new risk loci for coronary artery disease.
|
23202125 |
2013 |
Chronic Obstructive Airway Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
|
23144326 |
2012 |