Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.300 Biomarker disease CTD_human Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 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: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 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: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 18805785 2008
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 25848017 2015
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. 20871604 2010
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 27391121 2016
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 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: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. 21270825 2011
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 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: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 25582466 2014
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 26182405 2015
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 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: 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 CausalMutation disease CLINVAR Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 23881107 2013
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 17440703 2007
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 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: 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 CausalMutation disease CLINVAR A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. 23989343 2013
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP 		0.100 CausalMutation disease CLINVAR Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. 28750028 2017
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 CausalMutation disease CLINVAR Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. 28089741 2017