DisGeNET - a database of gene-disease associations

SHISA5, shisa family member 5, 51246

N. diseases: 2; N. variants: 14

Source: ALL

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:

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

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

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

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:

rs114582462

Entrez Id:	51246
Gene Symbol:	SHISA5

SHISA5

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs114582462

Entrez Id:	51246
Gene Symbol:	SHISA5

SHISA5

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs79318303

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0796126
Disease:

AICARDI-GOUTIERES SYNDROME 1

0.700

CausalMutation

CLINVAR

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

28750028

2017

dbSNP:

rs79318303

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0024145
Disease:

Chilblain lupus 1

0.700

CausalMutation

CLINVAR

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

28750028

2017

dbSNP:

rs79318303

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C1860518
Disease:

Vasculopathy, Retinal, With Cerebral Leukodystrophy

0.700

CausalMutation

CLINVAR

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

28750028

2017

dbSNP:

rs1553820518

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0796126
Disease:

AICARDI-GOUTIERES SYNDROME 1

0.700

GeneticVariation

CLINVAR

A 44-year-old man with eye, kidney, and brain dysfunction.

26691497

2016

dbSNP:

rs1553820518

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C1860518
Disease:

Vasculopathy, Retinal, With Cerebral Leukodystrophy

0.700

GeneticVariation

CLINVAR

A 44-year-old man with eye, kidney, and brain dysfunction.

26691497

2016

dbSNP:

rs1553820518

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0024145
Disease:

Chilblain lupus 1

0.700

GeneticVariation

CLINVAR

A 44-year-old man with eye, kidney, and brain dysfunction.

26691497

2016

dbSNP:

rs79318303

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0796126
Disease:

AICARDI-GOUTIERES SYNDROME 1

0.700

CausalMutation

CLINVAR

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

24300241

2014

dbSNP:

rs79318303

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C1860518
Disease:

Vasculopathy, Retinal, With Cerebral Leukodystrophy

0.700

CausalMutation

CLINVAR

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

25582466

2014

dbSNP:

rs79318303

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0024145
Disease:

Chilblain lupus 1

0.700

CausalMutation

CLINVAR

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

24300241

2014

dbSNP:

rs79318303

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C1860518
Disease:

Vasculopathy, Retinal, With Cerebral Leukodystrophy

0.700

CausalMutation

CLINVAR

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

24300241

2014

dbSNP:

rs79318303

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0796126
Disease:

AICARDI-GOUTIERES SYNDROME 1

0.700

CausalMutation

CLINVAR

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

25582466

2014

dbSNP:

rs79318303

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0024145
Disease:

Chilblain lupus 1

0.700

CausalMutation

CLINVAR

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

25582466

2014

dbSNP:

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

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:

rs76224909

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0796126
Disease:

AICARDI-GOUTIERES SYNDROME 1

0.700

GeneticVariation

UNIPROT

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

23979357

2013

dbSNP:

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

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:

rs76224909

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0796126
Disease:

AICARDI-GOUTIERES SYNDROME 1

0.700

GeneticVariation

UNIPROT

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

20131292

2010

dbSNP:

rs76224909

Entrez Id:	11277;51246;84126;111822955
Gene Symbol:	TREX1;SHISA5;ATRIP;ATRIP-TREX1

TREX1;SHISA5;ATRIP;ATRIP-TREX1

CUI:	C0796126
Disease:

AICARDI-GOUTIERES SYNDROME 1

0.700

GeneticVariation

UNIPROT

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

20799324

2010