Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 GeneticVariation 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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 Biomarker GENOMICS_ENGLAND A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. 29317407

2018
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 Biomarker GENOMICS_ENGLAND Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. 26642243

2016
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 GermlineCausalMutation ORPHANET Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. 26642243

2016
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 GeneticVariation UNIPROT Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease. 27175295

2016
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 GeneticVariation UNIPROT Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. 26642243

2016
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 Biomarker CTD_human

Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.710 CausalMutation CLINVAR

Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 Biomarker 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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation 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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 AlteredExpression 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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation BEFREE A de novo frameshift mutation in TNFAIP3 was found in the NPSLE patient. 31625129

2019
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation BEFREE Association of TNFAIP3 and TNIP1 polymorphisms with systemic lupus erythematosus risk: A meta-analysis. 29783072

2018
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation 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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 AlteredExpression BEFREE TNFAIP3 mRNA was significantly downregulated in the CD4 + T cells of SLE patients compared with NCs. 28158872

2017
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 Biomarker BEFREE C/EBP β/TNFAIP3/TNIP1 is associated with SLE activity. 27659348

2017
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation BEFREE Associations between TNFAIP3 gene polymorphisms and systemic lupus erythematosus risk: an updated meta-analysis. 27726311

2016
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation 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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. 26663301

2016
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 Biomarker BEFREE In conclusion, our data suggest that TNFAIP3 is a susceptible gene for SLE in the Han Chinese population. 26846592

2016
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966

2016
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 Biomarker 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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 GeneticVariation 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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 SusceptibilityMutation ORPHANET Variants in TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3 interact to confer risk of systemic lupus erythematosus in Chinese population. 24091983

2014