TNFAIP3, TNF alpha induced protein 3, 7128

N. diseases: 212; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 GeneticVariation disease BEFREE The heterozygous variant in IL36RN identified by Sanger sequencing was inherited from his unaffected father, while the heterozygous variant in TNFAIP3 was detected by whole-exome sequencing and was also identified in the patient's AISBL-affected maternal relatives. 31353537 2019
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 Biomarker disease GENOMICS_ENGLAND A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. 29317407 2018
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. 26642243 2016
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 GermlineCausalMutation disease ORPHANET Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. 26642243 2016
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 GeneticVariation disease UNIPROT Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease. 27175295 2016
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 GeneticVariation disease UNIPROT Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. 26642243 2016
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 Biomarker disease CTD_human
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 CausalMutation disease CLINVAR
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 Biomarker disease BEFREE Genetic variants in the genes Tnip1 and TNFAIP3 are both strongly associated with susceptibility to autoimmune chronic inflammatory diseases such as psoriasis vulgaris and systemic lupus erythematosus (SLE) in humans. 30341420 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease BEFREE However, IRF5 and TNFAIP3 gene alleles, established risk factors for SLE in populations of European and Asian ancestry, are not significantly associated with SLE in this cohort. 31032751 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 AlteredExpression disease BEFREE The TT > A variants associated with Chinese Han SLE and negatively regulate the expression of the TNFAIP3 gene resulting in enhanced NF-κB activity. 30529365 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease BEFREE A de novo frameshift mutation in TNFAIP3 was found in the NPSLE patient. 31625129 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease BEFREE Association of TNFAIP3 and TNIP1 polymorphisms with systemic lupus erythematosus risk: A meta-analysis. 29783072 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease BEFREE In conclusion, single nucleotide polymorphisms in ITGAM, TNFSF4, TNFAIP3 and STAT4 genes are associated with susceptibility to SLE in a North Indian population. 30041578 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 AlteredExpression disease BEFREE TNFAIP3 mRNA was significantly downregulated in the CD4 + T cells of SLE patients compared with NCs. 28158872 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 Biomarker disease BEFREE C/EBP β/TNFAIP3/TNIP1 is associated with SLE activity. 27659348 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease BEFREE Associations between TNFAIP3 gene polymorphisms and systemic lupus erythematosus risk: an updated meta-analysis. 27726311 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease BEFREE As proof of concept, we employed TALEN (transcription activation-like effector nuclease)-mediated genome editing to specifically disrupt the TT>A enhancer region to mimic candidate causal variants identified in the systemic lupus erythematosus-associated susceptibility gene, tumor necrosis factor-α-induced protein 3 (TNFAIP3), in an isogenic HEK293T cell line devoid of other linkage disequilibrium-associated variants. 26821284 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease GWASCAT Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. 26663301 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 Biomarker disease BEFREE In conclusion, our data suggest that TNFAIP3 is a susceptible gene for SLE in the Han Chinese population. 26846592 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966 2016
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 Biomarker disease BEFREE TNFAIP3 is a ubiquitin-editing enzyme that negatively regulates multiple NF-κB signaling pathways and dysregulation of TNFAIP3 is related to systemic lupus erythematosus (SLE). 26110642 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation disease BEFREE IRF5, PTPN22, CD28, IL2RA, KIF5A, BLK and TNFAIP3 genes polymorphisms and lupus susceptibility in a cohort from the Egypt Delta; relation to other ethnic groups. 26092158 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 SusceptibilityMutation disease ORPHANET Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population. 24091983 2014