IRF5, interferon regulatory factor 5, 3663

N. diseases: 226; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0003873
Disease:
Rheumatoid Arthritis
T 0.790 CausalMutation CLINVAR
dbSNP: rs10954213
rs10954213
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C2677097
Disease:
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C2677097
Disease:
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs2070197
rs2070197
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C4017076
Disease:
SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10
C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.100 GeneticVariation BEFREE A case-control association study was performed for rs2004640 as well as for rs10954213 and rs2280714, all of which were previously reported to be associated with SLE, in 281 SSc patients and 477 healthy controls. 19479858 2009
dbSNP: rs10954213
rs10954213
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.090 GeneticVariation BEFREE A case-control association study was performed for rs2004640 as well as for rs10954213 and rs2280714, all of which were previously reported to be associated with SLE, in 281 SSc patients and 477 healthy controls. 19479858 2009
dbSNP: rs3757387
rs3757387
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0017654
Disease:
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.790 GeneticVariation BEFREE A combined analysis including all 3 independent cohorts from the previous study revealed an association of the rs2004640 with RA (pooled OR 1.21, 95% CI 1.07-1.38, pooled p = 0.0031 in dominant model). 18843785 2008
dbSNP: rs3807306
rs3807306
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.800 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs3807306
rs3807306
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.800 GeneticVariation GWASCAT A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs2070197
rs2070197
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
C 0.730 GeneticVariation GWASCAT A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 19838195 2009
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0004364
Disease:
Autoimmune Diseases
0.020 GeneticVariation BEFREE A significant association was observed between the IRF5 markers (rs2004640, rs10954213) and susceptibility to SLE (p < 0.0001) and OP (p < 0.025). 24697591 2015
dbSNP: rs10954213
rs10954213
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.090 GeneticVariation BEFREE A significant association was observed between the IRF5 markers (rs2004640, rs10954213) and susceptibility to SLE (p < 0.0001) and OP (p < 0.025). 24697591 2015
dbSNP: rs10954213
rs10954213
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0004364
Disease:
Autoimmune Diseases
0.010 GeneticVariation BEFREE A significant association was observed between the IRF5 markers (rs2004640, rs10954213) and susceptibility to SLE (p < 0.0001) and OP (p < 0.025). 24697591 2015
dbSNP: rs10954213
rs10954213
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C3495559
Disease:
Juvenile arthritis
0.010 GeneticVariation BEFREE Allele and genotype frequencies of the rs10954213 and rs3807306 did not show any significant difference between JIA and control group. 29423720 2018
dbSNP: rs3807306
rs3807306
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C3495559
Disease:
Juvenile arthritis
0.010 GeneticVariation BEFREE Allele and genotype frequencies of the rs10954213 and rs3807306 did not show any significant difference between JIA and control group. 29423720 2018
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0024138
Disease:
Lupus Erythematosus, Discoid
0.010 GeneticVariation BEFREE Although we could not demonstrate susceptibility toward lupus in the presence of IRF5 rs2004640 (G/T) polymorphism, further exploration of the genetic variability of IRF5 may help uncover its pathogenic role in Indian SLE patients. 30168487 2018
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0024131
Disease:
Lupus Vulgaris
0.010 GeneticVariation BEFREE Although we could not demonstrate susceptibility toward lupus in the presence of IRF5 rs2004640 (G/T) polymorphism, further exploration of the genetic variability of IRF5 may help uncover its pathogenic role in Indian SLE patients. 30168487 2018
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0409974
Disease:
Lupus Erythematosus
0.010 GeneticVariation BEFREE Although we could not demonstrate susceptibility toward lupus in the presence of IRF5 rs2004640 (G/T) polymorphism, further exploration of the genetic variability of IRF5 may help uncover its pathogenic role in Indian SLE patients. 30168487 2018
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.100 GeneticVariation BEFREE Although we could not demonstrate susceptibility toward lupus in the presence of IRF5 rs2004640 (G/T) polymorphism, further exploration of the genetic variability of IRF5 may help uncover its pathogenic role in Indian SLE patients. 30168487 2018
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0036421
Disease:
Systemic Scleroderma
0.090 GeneticVariation BEFREE Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not. 28434122 2017
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0034069
Disease:
Pulmonary Fibrosis
0.020 GeneticVariation BEFREE Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not. 28434122 2017
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0036421
Disease:
Systemic Scleroderma
0.090 GeneticVariation BEFREE An additive effect of the STAT4 rs7574865 T allele and the IRF5 rs2004640 T allele was observed, resulting in a multiple increased 1.28-fold risk of SSc. 19644887 2009
dbSNP: rs10954213
rs10954213
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.090 GeneticVariation BEFREE And a three-way interaction between TYK2 rs280500, rs2304256 and IRF5 rs10954213 and SLE was found (p < 0.0001). 26294277 2015
dbSNP: rs2004640
rs2004640
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
CUI: C0034069
Disease:
Pulmonary Fibrosis
0.020 GeneticVariation BEFREE Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. 19116937 2009