TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
Disease: Lupus Vulgaris ×
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: C0024131
Disease:
Lupus Vulgaris 		0.010 GeneticVariation BEFREE Thus, dysfunctional dsDNA degradation by TREX1 D18N induces disease in mice that recapitulates many characteristics of human lupus. 25848017 2015
dbSNP: rs370504038
rs370504038
Entrez Id: 11277;51246;84126;111822955
Gene Symbol: TREX1;SHISA5;ATRIP;ATRIP-TREX1
TREX1;SHISA5;ATRIP;ATRIP-TREX1
CUI: C0024131
Disease:
Lupus Vulgaris 		0.010 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: rs72556554
rs72556554
Entrez Id: 11277;84126;111822955
Gene Symbol: TREX1;ATRIP;ATRIP-TREX1
TREX1;ATRIP;ATRIP-TREX1
CUI: C0024131
Disease:
Lupus Vulgaris 		0.010 GeneticVariation BEFREE The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424 2011