TREX1, three prime repair exonuclease 1, 11277

N. diseases: 20; N. variants: 34
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
CUI: C0021400
Disease: Influenza
Influenza 		0.300 Biomarker disease CTD_human A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2. 23326326 2013
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease 		0.300 Biomarker disease CTD_human Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 17660818 2007
CUI: C0021368
Disease: Inflammation
Inflammation 		0.300 Biomarker phenotype CTD_human Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.300 Biomarker group CTD_human Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.300 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
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.310 Biomarker disease GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		0.310 Biomarker group CTD_human Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006
CUI: C4303791
Disease: Cerebroretinal vasculopathy
Cerebroretinal vasculopathy 		0.310 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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 25582466 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND New roles for the major human 3'-5' exonuclease TREX1 in human disease. 18583934 2008
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.410 Biomarker group GENOMICS_ENGLAND Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.420 Biomarker group GENOMICS_ENGLAND Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		0.500 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
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		0.710 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
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		0.710 Biomarker disease GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		0.710 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		0.710 Biomarker disease GENOMICS_ENGLAND [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 25582466 2014
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		0.710 GermlineCausalMutation disease ORPHANET Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation. 20876473 2010
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		0.710 GermlineCausalMutation disease ORPHANET New roles for the major human 3'-5' exonuclease TREX1 in human disease. 18583934 2008
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		0.710 Biomarker disease GENOMICS_ENGLAND New roles for the major human 3'-5' exonuclease TREX1 in human disease. 18583934 2008
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		0.710 GermlineCausalMutation disease ORPHANET C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 17660820 2007
CUI: C1860518
Disease: Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasculopathy, Retinal, With Cerebral Leukodystrophy 		0.710 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