TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
Disease: Lupus Erythematosus, Systemic ×
Source: ALL
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: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.730 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: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.730 GeneticVariation BEFREE 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: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.730 GeneticVariation BEFREE A rare homozygous R114H mutation was identified in one Asian SLE patient, whereas all genotypes at this mutation in previous reports for SLE were heterozygous. 21270825 2011
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.730 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: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.730 GeneticVariation BEFREE By comparison, the TREX1 R114H homozygous mutation causes AGS and is found as a heterozygous mutation in systemic lupus erythematosus. 18805785 2008
dbSNP: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.730 GeneticVariation UNIPROT Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 17660818 2007
dbSNP: rs370504038
rs370504038
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.710 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
dbSNP: rs370504038
rs370504038
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.710 GeneticVariation BEFREE Five heterozygous mutations were detected at the Y305C polymorphism in European lupus cases but none were observed in European controls. 21270825 2011
dbSNP: rs370504038
rs370504038
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.710 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs370504038
rs370504038
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.710 GeneticVariation UNIPROT Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 17660818 2007
dbSNP: rs148833270
rs148833270
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
dbSNP: rs72556555
rs72556555
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
dbSNP: rs762011967
rs762011967
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357 2013
dbSNP: rs148833270
rs148833270
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs72556555
rs72556555
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs762011967
rs762011967
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292 2010
dbSNP: rs148833270
rs148833270
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 17660818 2007
dbSNP: rs72556555
rs72556555
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 17660818 2007
dbSNP: rs762011967
rs762011967
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 17660818 2007
dbSNP: rs112741962
rs112741962
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT
dbSNP: rs113107733
rs113107733
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT
dbSNP: rs760838030
rs760838030
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs780022923
rs780022923
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation UNIPROT
dbSNP: rs121908117
rs121908117
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.010 GeneticVariation BEFREE Thus, dysfunctional dsDNA degradation by TREX1 D18N induces disease in mice that recapitulates many characteristics of human lupus. 25848017 2015