Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 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 		0.900 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 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 		0.900 CausalMutation disease CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 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 		0.900 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 CausalMutation disease CLINVAR Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 24183309 2013
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 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 		0.900 GeneticVariation disease CLINVAR A 44-year-old man with eye, kidney, and brain dysfunction. 26691497 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 CausalMutation disease CLINVAR Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 GeneticVariation disease CLINVAR C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 17660820 2007
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 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 		0.900 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 		0.900 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 		0.900 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 		0.900 CausalMutation disease CLINVAR A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. 23602593 2013
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 GeneticVariation disease CLINVAR Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing. 25138095 2014
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 CausalMutation disease CLINVAR A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 17440703 2007
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 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 		0.900 GeneticVariation disease CLINVAR Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 24183309 2013
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 CausalMutation disease CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 CausalMutation disease CLINVAR Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 23881107 2013
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 CausalMutation disease CLINVAR Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. 28089741 2017
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 CausalMutation disease CLINVAR The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424 2011