TREX1, three prime repair exonuclease 1, 11277

N. diseases: 20; N. variants: 34
Disease: AICARDI-GOUTIERES SYNDROME 1 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 CausalMutation CLINVAR Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. 28089741 2017
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 CausalMutation CLINVAR Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 27391121 2016
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 CausalMutation CLINVAR Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 25848017 2015
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 CausalMutation CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 CausalMutation CLINVAR Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 26182405 2015
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 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: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 CausalMutation CLINVAR A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. 23989343 2013
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 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: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
dbSNP: rs78408272
rs78408272
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
dbSNP: rs78846775
rs78846775
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 CausalMutation CLINVAR Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. 21270825 2011
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 CausalMutation CLINVAR The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424 2011
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT 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: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 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: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 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: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT 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: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT 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: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324 2010
dbSNP: rs78408272
rs78408272
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs78408272
rs78408272
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324 2010
dbSNP: rs78846775
rs78846775
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324 2010
dbSNP: rs78846775
rs78846775
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0796126
Disease:
AICARDI-GOUTIERES SYNDROME 1 		A 0.800 CausalMutation CLINVAR The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 18805785 2008