Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3 		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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3 		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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3 		0.710 Biomarker disease 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 		0.710 GermlineCausalMutation disease 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 		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
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3 		0.710 GeneticVariation disease 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 		0.710 Biomarker disease CTD_human
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3 		0.710 CausalMutation disease CLINVAR
Entrez Id: 26525
Gene Symbol: IL36RN
IL36RN 		0.010 GeneticVariation disease BEFREE We report on a patient with a unique coinheritance of pathogenic variants in IL36RN (c.115+6T>C) and TNFAIP3 (c.547C>T, p.R183*) causing the genetic entities GPP and familial Behçet-like autoinflammatory syndrome (AISBL). 31353537 2019