DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Lupus Erythematosus, Systemic ×

Gene: TREX1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs72556554

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.730

GeneticVariation

UNIPROT

The TREX1 C-terminal region controls cellular localization through ubiquitination.

23979357

2013

dbSNP:

rs72556554

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.730

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs72556554

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.710

GeneticVariation

UNIPROT

The TREX1 C-terminal region controls cellular localization through ubiquitination.

23979357

2013

dbSNP:

rs370504038

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.710

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs370504038

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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:

rs112741962

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113107733

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

UNIPROT

dbSNP:

rs148833270

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

UNIPROT

The TREX1 C-terminal region controls cellular localization through ubiquitination.

23979357

2013

dbSNP:

rs148833270

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs148833270

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

UNIPROT

The TREX1 C-terminal region controls cellular localization through ubiquitination.

23979357

2013

dbSNP:

rs72556555

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs72556555

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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:

rs760838030

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

CLINVAR

dbSNP:

rs762011967

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

UNIPROT

The TREX1 C-terminal region controls cellular localization through ubiquitination.

23979357

2013

dbSNP:

rs762011967

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

UNIPROT

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

20131292

2010

dbSNP:

rs762011967

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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:

rs780022923

TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

Lupus Erythematosus, Systemic

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121908117

TREX1 ; ATRIP ; ATRIP-TREX1

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

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