DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: AICARDI-GOUTIERES SYNDROME 1 ×

Gene: TREX1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	11277
Gene Symbol:	TREX1

TREX1

CUI:	C0796126
Disease:	AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 1

0.900

Biomarker

GENOMICS_ENGLAND

Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation.

27411419

2017

Entrez Id:	11277
Gene Symbol:	TREX1

TREX1

CUI:	C0796126
Disease:	AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 1

0.900

Biomarker

GENOMICS_ENGLAND

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

25604658

2015

Entrez Id:	11277
Gene Symbol:	TREX1

TREX1

CUI:	C0796126
Disease:	AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 1

0.900

Biomarker

GENOMICS_ENGLAND

[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].

25582466

2014

Entrez Id:	11277
Gene Symbol:	TREX1

TREX1

CUI:	C0796126
Disease:	AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 1

0.900

Biomarker

GENOMICS_ENGLAND

A practical approach to diagnosing adult onset leukodystrophies.

24357685

2014

Entrez Id:	11277
Gene Symbol:	TREX1

TREX1

CUI:	C0796126
Disease:	AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 1

0.900

Biomarker

GENOMICS_ENGLAND

New roles for the major human 3'-5' exonuclease TREX1 in human disease.

18583934

2008

Entrez Id:	11277
Gene Symbol:	TREX1

TREX1

CUI:	C0796126
Disease:	AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 1

0.900

Biomarker

GENOMICS_ENGLAND

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

17660818

2007

Entrez Id:	11277
Gene Symbol:	TREX1

TREX1

CUI:	C0796126
Disease:	AICARDI-GOUTIERES SYNDROME 1

AICARDI-GOUTIERES SYNDROME 1

0.900

Biomarker

GENOMICS_ENGLAND

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

16845398

2006