Variant: rs145588689 

    present in Gene: ADAR
    present in Chromosome: 1
    Position on Chromosome: 154602065
    Alleles of this Variant: G/C;T

rs145588689 in ADAR gene and AICARDI-GOUTIERES SYNDROME PMID 24262145 2014 A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

PMID 23001123 2012 Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

rs145588689 in ADAR gene and AICARDI-GOUTIERES SYNDROME 6 PMID 23001123 2012 Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

rs145588689 in ADAR gene and Movement Disorders PMID 12916015 2003 Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

PMID 26802932 2016 Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.

PMID 15146470 2004 Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).

PMID 16536805 2006 Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria.

PMID 24950769 2014 Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.

PMID 24183309 2013 Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

PMID 23621630 2013 The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria.

PMID 25604658 2015 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

PMID 24262145 2014 A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.