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 Biomarker disease GENOMICS_ENGLAND Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation. 27411419 2017
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 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 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 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 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 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 Biomarker disease MGD The AIM2-like Receptors Are Dispensable for the Interferon Response to Intracellular DNA. 27496731 2016
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 Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 25848017 2015
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 Biomarker disease GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 CausalMutation disease CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 Biomarker disease GENOMICS_ENGLAND [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 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 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
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 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 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 Biomarker disease MGD Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response. 23972988 2013
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 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 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 Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 23881107 2013