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 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 Biomarker disease BEFREE We have reported 20 different mutations of the adenosine deaminase acting on RNA 1 gene (ADAR1) in patients with DSH since we had clarified that the disease is caused by a mutation of the ADAR1 gene in 2003. 16917490 2007
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. 17569068 2007
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 add new variants to the knowledge of DSRAD mutations in DSH. 17033168 2006
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 PosttranslationalModification disease BEFREE Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. 16536805 2006
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE Further investigation of ADAR1 mutations will shed light on the genotype-phenotype correlation in DSH. 16817193 2006
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 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 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 Our study expands the database on the DSRAD gene mutations in DSH and enriches the knowledge about the function of the DSRAD gene. 15844011 2005
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE Our data suggests that these two novel mutations in the DSRAD gene could cause DSH and add new variants to the repertoire of DSRAD mutations in DSH. 16215765 2005
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation disease BEFREE The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described. 16086746 2005
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 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 GeneticVariation disease BEFREE We directly performed mutation detection of the DSRAD gene in 2 Chinese families with DSH by sequencing. 15724015 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 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 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 BEFREE 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 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 Biomarker disease BEFREE This is the first report on DSRAD as the causative gene of DSH in the Chinese population. 15102079 2004
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 BEFREE 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 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