SHISA5, shisa family member 5, 51246

N. diseases: 2; N. variants: 14
Disease: AICARDI-GOUTIERES SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76224909
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: rs76224909
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
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
dbSNP: rs76224909
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 Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 17357087 2007
dbSNP: rs76224909
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 Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. 18045533 2007
dbSNP: rs76224909
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 Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997 2007
dbSNP: rs76224909
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 crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. 17293595 2007
dbSNP: rs76224909
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 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006