Gene: ADAR

Alternate names for this Gene: ADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136

Gene Summary: This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: adenosine deaminase RNA specific

Type of Gene: protein-coding

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.

PMID 15724015 2005 Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria.

PMID 15955093 2005 Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.

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

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

rs962242 in ADAR gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs78062588 in ADAR gene and Carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs3738030 in ADAR gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

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.

rs1557863734 in ADAR gene and Symmetrical dyschromatosis of extremities PMID 15724015 2005 Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria.

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

rs884618 in ADAR gene and White Blood Cell Count procedure PMID 21738479 2011 Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).