ANXA11, annexin A11, 311

N. diseases: 57; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693381
Disease: AMYOTROPHIC LATERAL SCLEROSIS 23
AMYOTROPHIC LATERAL SCLEROSIS 23
0.600 Biomarker disease GENOMICS_ENGLAND ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia. 29845112 2018
CUI: C4693381
Disease: AMYOTROPHIC LATERAL SCLEROSIS 23
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
CUI: C4693381
Disease: AMYOTROPHIC LATERAL SCLEROSIS 23
AMYOTROPHIC LATERAL SCLEROSIS 23
0.600 CausalMutation disease CLINVAR
CUI: C0036202
Disease: Sarcoidosis
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
CUI: C0036202
Disease: Sarcoidosis
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
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.500 Biomarker disease BEFREE Annexin A11 is associated with pulmonary fibrosis in African American patients with sarcoidosis. 28079857 2016
CUI: C0036202
Disease: Sarcoidosis
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
CUI: C0036202
Disease: Sarcoidosis
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
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.500 GeneticVariation disease GWASDB Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. 22936702 2013
CUI: C0036202
Disease: Sarcoidosis
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
CUI: C0036202
Disease: Sarcoidosis
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
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.500 GeneticVariation disease GWASCAT Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. 22936702 2013
CUI: C0036202
Disease: Sarcoidosis
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
CUI: C0036202
Disease: Sarcoidosis
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
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.500 GeneticVariation disease BEFREE Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. 19165924 2008
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.500 Biomarker disease CTD_human Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. 19165924 2008
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.500 GeneticVariation disease GWASDB Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. 19165924 2008
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.440 Biomarker disease HPO
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.100 GeneticVariation disease GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 GeneticVariation disease GWASCAT Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. 23144326 2012