TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
Disease: Chilblain lupus 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.810 CausalMutation CLINVAR The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called familial chilblain lupus, and the TREX1 D18N enzyme exhibits dysfunctional dsDNA-degrading activity, providing a link between dsDNA degradation and nucleic acid-mediated autoimmune disease. 25848017 2015
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.810 CausalMutation CLINVAR A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. 23989343 2013
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.810 CausalMutation CLINVAR Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. 22829693 2013
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.810 CausalMutation CLINVAR The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. 20871604 2010
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.810 CausalMutation CLINVAR A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324 2010
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.810 CausalMutation CLINVAR The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 18805785 2008
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		0.810 GeneticVariation UNIPROT Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 17357087 2007
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		0.810 GeneticVariation BEFREE Lymphoblastoid cells carrying the D18N mutation are significantly less sensitive to granzyme A-mediated cell death, suggesting a novel role for this caspase-independent form of apoptosis in the pathogenesis of familial chilblain lupus. 17440703 2007
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.810 CausalMutation CLINVAR Lymphoblastoid cells carrying the D18N mutation are significantly less sensitive to granzyme A-mediated cell death, suggesting a novel role for this caspase-independent form of apoptosis in the pathogenesis of familial chilblain lupus. 17440703 2007
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		0.810 GeneticVariation UNIPROT Lymphoblastoid cells carrying the D18N mutation are significantly less sensitive to granzyme A-mediated cell death, suggesting a novel role for this caspase-independent form of apoptosis in the pathogenesis of familial chilblain lupus. 17440703 2007
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.700 CausalMutation CLINVAR Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. 28089741 2017
dbSNP: rs79318303
rs79318303
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		G 0.700 CausalMutation CLINVAR Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. 28750028 2017
dbSNP: rs1553820518
rs1553820518
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		T 0.700 GeneticVariation CLINVAR A 44-year-old man with eye, kidney, and brain dysfunction. 26691497 2016
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.700 CausalMutation CLINVAR Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 27391121 2016
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.700 CausalMutation CLINVAR Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 26182405 2015
dbSNP: rs79318303
rs79318303
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		G 0.700 CausalMutation 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
dbSNP: rs79318303
rs79318303
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		G 0.700 CausalMutation CLINVAR [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 25582466 2014
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.700 CausalMutation CLINVAR Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 23881107 2013
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.700 CausalMutation CLINVAR The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424 2011
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.700 CausalMutation CLINVAR Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. 21270825 2011
dbSNP: rs77371662
rs77371662
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		TGGC 0.700 CausalMutation CLINVAR The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424 2011
dbSNP: rs79318303
rs79318303
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		G 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.700 CausalMutation CLINVAR The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 18805785 2008
dbSNP: rs1553820518
rs1553820518
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		T 0.700 GeneticVariation CLINVAR C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 17660820 2007
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024145
Disease:
Chilblain lupus 1 		A 0.700 CausalMutation CLINVAR The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. 17293595 2007