Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation BEFREE Collectively, these results implicate NETs and the Act1 D10N variant in human Th17 induction from peripheral blood mononuclear cells, with ramifications for immunogenetic studies of psoriasis and other autoimmune diseases. 30528823 2019
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation BEFREE Collectively, these results implicate NETs and the Act1 D</span>10N variant in human Th17 induction from peripheral blood mononuclear cells, with ramifications for immunogenetic studies of psoriasis and other autoimmune diseases. 30528823 2019
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation BEFREE We have replicated the association of TRAF3IP2-_rs33980500 variant with the susceptibility to psoriasis. 24005976 2014
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation BEFREE The hyperactive Th17 response combined with fully responsive fibroblasts likely synergized to contribute to psoriasis susceptibility in SNP-D10N patients. 25024377 2014
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation BEFREE By contrast, healthy individuals homozygous for the common variant D10N, located in the ACT1 tumor necrosis factor receptor-associated factor-interacting domain and previously associated with psoriasis, had impaired, but not abolished, responses to IL-17 cytokines. 24120361 2013
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation BEFREE In the absence of IL-17 signaling, IL-22 was the main contributor to skin inflammation, which provides a molecular mechanism for the association of Act1(D10N) with psoriasis susceptibility. 23202271 2013
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation GWASCAT Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594 2012
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation GWASDB Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594 2012
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation GWASCAT Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. 20953188 2010
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.850 GeneticVariation GWASDB Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. 20953188 2010
Arthritis, Psoriatic
CUI: C0003872
Disease: Arthritis, Psoriatic
0.820 GeneticVariation GWASCAT Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. 26626624 2015
Arthritis, Psoriatic
CUI: C0003872
Disease: Arthritis, Psoriatic
0.820 GeneticVariation BEFREE However, the dominant PsA-associated TRAF3IP2 (Act1) gene single-nucleotide polymorphism (rs33980500) results in decreased binding of Act1 to TRAF6. 23116200 2012
Arthritis, Psoriatic
CUI: C0003872
Disease: Arthritis, Psoriatic
0.820 GeneticVariation GWASDB Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. 20953186 2010
Arthritis, Psoriatic
CUI: C0003872
Disease: Arthritis, Psoriatic
0.820 GeneticVariation GWASCAT Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. 20953186 2010
Arthritis, Psoriatic
CUI: C0003872
Disease: Arthritis, Psoriatic
0.820 GeneticVariation BEFREE A stratified analysis of our datasets including only PsA cases (1,922 cases compared to 8,037 controls, P = 4.57 × 10⁻¹² for rs33980500) suggested that TRAF3IP2 represents a shared susceptibility for PsV and PsA. 20953188 2010
Psoriasis vulgaris
CUI: C0263361
Disease: Psoriasis vulgaris
0.710 GeneticVariation GWASCAT Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. 26626624 2015
Psoriasis vulgaris
CUI: C0263361
Disease: Psoriasis vulgaris
0.710 GeneticVariation BEFREE A stratified analysis of our datasets including only PsA cases (1,922 cases compared to 8,037 controls, P = 4.57 × 10⁻¹² for rs33980500) suggested that TRAF3IP2 represents a shared susceptibility for PsV and PsA. 20953188 2010
PSORIASIS 13, SUSCEPTIBILITY TO
CUI: C3279754
Disease: PSORIASIS 13, SUSCEPTIBILITY TO
0.700 GeneticVariation UNIPROT Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. 20953186 2010
PSORIASIS 13, SUSCEPTIBILITY TO
CUI: C3279754
Disease: PSORIASIS 13, SUSCEPTIBILITY TO
0.700 GeneticVariation UNIPROT Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. 20953188 2010
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.010 GeneticVariation BEFREE Collectively, these results implicate NETs and the Act1 D10N variant in human Th17 induction from peripheral blood mononuclear cells, with ramifications for immunogenetic studies of psoriasis and other autoimmune diseases. 30528823 2019
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.010 GeneticVariation BEFREE T allele of TRAF3IP2 rs33980500 was also associated with female gender, family history of cardiovascular disease, and mechanical complications of heart (P = .04, P = .02, and P = .01, respectively). 29430728 2018
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.010 GeneticVariation BEFREE To compare frequencies of functional polymorphisms of TRAF3IP2 (rs13210247, rs33980500) between patients with MI and healthy controls. 29430728 2018
Left Main Coronary Artery Stenosis
CUI: C2062905
Disease: Left Main Coronary Artery Stenosis
0.010 GeneticVariation BEFREE The highest correlation, however, was observed between the TRAF3IP2 rs33980500 TT genotype and T allele with left main coronary artery stenosis (P = .01, P < .001; OR = 31.03). 29430728 2018
Pustular psoriasis
CUI: C0152081
Disease: Pustular psoriasis
0.010 GeneticVariation BEFREE Analyses of clinically relevant phenotypes revealed association of rs33980500 with pustular psoriasis (OR = 1.2, p = 0.0109). 24005976 2014
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.010 GeneticVariation BEFREE Lacking this compensatory mechanism, ACT1(D10N/D10N) T cells behave like ACT1-deficient T cells, exhibiting a dysregulated and hyperactive Th17 phenotype with overproduction of IL-22 and IL-17. 25024377 2014