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