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 UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
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
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.900 CausalMutation disease CLINVAR Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. 21270825 2011
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.900 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 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 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 A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324 2010
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.900 GeneticVariation disease UNIPROT A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324 2010
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.900 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 CausalMutation disease CLINVAR The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 18805785 2008
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 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 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 17357087 2007
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 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 17660818 2007
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 CausalMutation disease CLINVAR 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 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 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 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 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 Biomarker disease MGD Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis. 15254239 2004
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
0.300 Biomarker disease CTD_human Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014