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