Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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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 | ||||
|
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 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. | 26642243 | 2016 | ||||
|
0.710 | GermlineCausalMutation | disease | ORPHANET | Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. | 26642243 | 2016 | ||||
|
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 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. | 26642243 | 2016 | ||||
|
0.710 | Biomarker | disease | CTD_human | |||||||
|
0.710 | CausalMutation | disease | CLINVAR | |||||||
|
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 |