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 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 GeneticVariation disease UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 GeneticVariation disease UNIPROT Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. 18045533 2007
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 GeneticVariation disease UNIPROT 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 UNIPROT Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 17357087 2007
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 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 GeneticVariation disease UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
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 GeneticVariation disease UNIPROT The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. 17293595 2007
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 GeneticVariation disease UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 GeneticVariation disease UNIPROT A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324 2010
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 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: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 GeneticVariation disease CLINVAR A 44-year-old man with eye, kidney, and brain dysfunction. 26691497 2016
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 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: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 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 Biomarker disease GENOMICS_ENGLAND 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 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 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 Biomarker disease GENOMICS_ENGLAND New roles for the major human 3'-5' exonuclease TREX1 in human disease. 18583934 2008
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.900 Biomarker disease CTD_human 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 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 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014