ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Disease: Symmetrical dyschromatosis of extremities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 Biomarker disease GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease UNIPROT The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene. 12916015 2003
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease UNIPROT Our data add new variants to the repertoire of ADAR mutations in DSH. 15146470 2004
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease UNIPROT Our data suggests that R1155W missense mutation is a new mutation in exon 15 of DSRAD gene and further testify that DSRAD gene is the pathogenic gene of DSH. 15659327 2005
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GermlineCausalMutation disease ORPHANET The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene. 12916015 2003
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 Biomarker disease CTD_human
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 CausalMutation disease CLINVAR Our data add new variants to the repertoire of ADAR mutations in DSH. 15146470 2004
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease CLINVAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 CausalMutation disease CLINVAR Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. 15724015 2005
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE We identified five novel and two recurrent mutations of the ADAR1 gene in seven Chinese families with DSH and investigated potential effects of the novel mutations in this study. 24950769 2014
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE Our data suggests that R1155W missense mutation is a new mutation in exon 15 of DSRAD gene and further testify that DSRAD gene is the pathogenic gene of DSH. 15659327 2005
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 Biomarker disease BEFREE So, the exact pathogenic mechanism of ADAR1 in DSH patients wasn't clarified in this study. 29536976 2019
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE Our study expands the database on the DSRAD gene mutations in DSH. 18627385 2008
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 Biomarker disease BEFREE Six novel mutations were found in five unrelated families and one sporadic case, which have further improved our understanding on the role of ADAR1 in DSH. 18243666 2008
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE The novel variants described in the current study add to the current knowledge of ADAR1 mutations in DSH. 28393185 2017
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 Biomarker disease BEFREE We have clarified for the first time four pathological mutations of the double-stranded RNA-specific adenosine deaminase gene (ADAR1 or DSRAD) in four DSH pedigrees. 15955093 2005
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE To refine the previously mapped region that facilitates the identification of the DSH gene and to delineate the clinical and genetic features of Chinese DSH cases by a literature review of 136 cases reported in China. 15099357 2004
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on DSRAD gene mutations in DSH. 17021765 2006
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE We reviewed a total of 48 mutations in the ADAR gene in patients with dyschromatosis symmetrica hereditaria by previous reports and speculated that the mutation hotspots on the ADAR gene might be located in exons 9-15. 17225010 2007
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. 15347341 2004
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on ADAR gene mutations in DSH. 16133458 2005
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE A Chinese family with typical DSH was screened for mutation of ADAR1, and we aimed to investigate the functional significance of the identified mutation. 23621630 2013
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE We add new variants to the knowledge of DSRAD mutations in DSH. 22039911 2012
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 PosttranslationalModification disease BEFREE Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria. 20186421 2010