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: rs1553820518
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 		T 0.700 GeneticVariation CLINVAR A 44-year-old man with eye, kidney, and brain dysfunction. 26691497 2016
dbSNP: rs1553820518
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 		T 0.700 GeneticVariation CLINVAR C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 17660820 2007