rs4077515, CARD9

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.800 GeneticVariation GWASCAT Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation GWASDB Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463 2010
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.800 GeneticVariation GWASDB Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
IGA Glomerulonephritis
CUI: C0017661
Disease: IGA Glomerulonephritis
0.710 GeneticVariation BEFREE For additive interaction, the CT or TT of rs</span>4077515 and GG of 17019602 genotype combination conferred a 2.56-fold risk of IgAN reference to CC of 4077515 and AA of 17019602 (OR = 2.56, 95% CI: 0.98-6.69, <i>P</i> = 0.049). 29100328 2017
IGA Glomerulonephritis
CUI: C0017661
Disease: IGA Glomerulonephritis
0.710 GeneticVariation GWASCAT Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. 25305756 2014
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.020 GeneticVariation BEFREE This case-control study was performed on 349 unrelated AS patients and 469 age- and gender-matched healthy controls, to investigate whether these non-MHC genes (IL1R2 rs2310173, ANTXR2 rs4333130, CARD9 rs4077515, and SNAPC4 rs3812571) influence the AS risk in Iranian population. 26590821 2016
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.020 GeneticVariation BEFREE A recent genome-wide association screen (GWAS) identified associations (P approximately 0.005) with the non-synonymous single-nucleotide polymorphisms (nsSNPs), rs4077515 and rs3812571, in caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) on chromosome 9q that had previously been linked to AS. 20463747 2010
Autoimmune thrombocytopenia
CUI: C0242584
Disease: Autoimmune thrombocytopenia
0.010 GeneticVariation BEFREE A CARD9 single-nucleotide polymorphism rs4077515 is associated with reduced susceptibility to and severity of primary immune thrombocytopenia. 31595308 2019
Immune thrombocytopenic purpura
CUI: C0398650
Disease: Immune thrombocytopenic purpura
0.010 GeneticVariation BEFREE However, CARD9 rs4077515 polymorphism had no effect on corticosteroid sensitivity or refractoriness of IT</span>P. 31595308 2019
Thrombocytopenia due to platelet alloimmunization
0.010 GeneticVariation BEFREE A CARD9 single-nucleotide polymorphism rs4077515 is associated with reduced susceptibility to and severity of primary immune thrombocytopenia. 31595308 2019
Aspergillosis, Allergic Bronchopulmonary
0.010 GeneticVariation BEFREE We identified the homozygous CARD9 mutation encoding S12N in patients with allergic bronchopulmonary aspergillosis and revealed activation of RelB and production of IL-5 in peripheral blood mononuclear cells from these patients. 29777223 2018
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.010 GeneticVariation BEFREE The single-nucleotide polymorphism rs4077515 at CARD9 in the human genome, which results in the substitution S12N (CARD9<sup>S12N</sup>), is associated with several autoimmune diseases. 29777223 2018
Candidemia
CUI: C0877445
Disease: Candidemia
0.010 GeneticVariation BEFREE No significant association between the single-nucleotide polymorphisms DECTIN-1 Y238X and CARD9 S12N and the prevalence of candidemia was found, despite the association of the DECTIN-1 238X allele with impaired in vitro and in vivo cytokine production. 21881131 2011