TNFAIP3, TNF alpha induced protein 3, 7128

N. diseases: 212; N. variants: 29
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE ×
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