Gene: TREX1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. 28750028 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 GeneticVariation disease BEFREE 10 families with familial chilblain lupus related to TREX1 mutations were reported previously in the literature, in which homozygote D18N variant in TREX1 gene was related to chilblains with cerebral vasculitis. 28919362 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 GeneticVariation disease BEFREE Consistently, mutations in TREX1 are linked with autoimmune diseases such as systemic lupus erythematosus, Aicardi-Goutières syndrome (AGS) and familial chilblain lupus. 28334850 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 Biomarker disease CTD_human Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. 27566796 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. 28089741 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 27391121 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 GeneticVariation disease CLINVAR A 44-year-old man with eye, kidney, and brain dysfunction. 26691497 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 25848017 2015
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 GeneticVariation disease BEFREE Mutations in TREX1, a 3' repair exonuclease that degrades cytosolic DNA, cause Aicardi-Goutières syndrome and chilblain lupus. 26223655 2015
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 GeneticVariation disease BEFREE Familial chilblain lupus is usually caused by a mutation in TREX1 (3' repair exonuclease 1). 25517357 2015
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 26182405 2015
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. 24300241 2014
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 25582466 2014
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 GeneticVariation disease BEFREE Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit dominant autoimmune phenotypes associated with the clinical disorders familial chilblain lupus and Aicardi-Goutières syndrome. 24616097 2014
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 23881107 2013
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. 23989343 2013
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. 22829693 2013
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424 2011
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 GeneticVariation disease BEFREE TREX1 mutations at amino acid positions Asp-18 and Asp-200 in familial chilblain lupus and Aicardi-Goutières syndrome elicit dominant immune dysfunction phenotypes. 21808053 2011
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. 21270825 2011
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324 2010
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. 20871604 2010
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 Biomarker disease BEFREE Chilblain lupus has been linked to the deficiency of 3'-5' repair exonuclease Trex1 that metabolizes DNA reverse-transcribed from ERV. 20644481 2010
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.790 CausalMutation disease CLINVAR The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 18805785 2008