ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145588689
rs145588689
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. 12916015 2003
dbSNP: rs779357448
rs779357448
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. 12916015 2003
dbSNP: rs145588689
rs145588689
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 15146470 2004
dbSNP: rs779357448
rs779357448
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease:
Symmetrical dyschromatosis of extremities 		C 0.700 CausalMutation CLINVAR Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 15146470 2004
dbSNP: rs779357448
rs779357448
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		C 0.700 CausalMutation CLINVAR Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 15146470 2004
dbSNP: rs779357448
rs779357448
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 15146470 2004
dbSNP: rs398122822
rs398122822
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. 15955093 2005
dbSNP: rs1044845711
rs1044845711
Entrez Id: 103;1141
Gene Symbol: ADAR;CHRNB2
ADAR;CHRNB2
CUI: C0406775
Disease:
Symmetrical dyschromatosis of extremities 		0.720 GeneticVariation 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
dbSNP: rs1557863734
rs1557863734
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		C 0.700 CausalMutation CLINVAR Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. 15724015 2005
dbSNP: rs1557863734
rs1557863734
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease:
Symmetrical dyschromatosis of extremities 		C 0.700 CausalMutation CLINVAR Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. 15724015 2005
dbSNP: rs145588689
rs145588689
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. 16536805 2006
dbSNP: rs779357448
rs779357448
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. 16536805 2006
dbSNP: rs374300359
rs374300359
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease:
Symmetrical dyschromatosis of extremities 		0.010 GeneticVariation BEFREE Our study suggests that splice site mutation IVS5-1g>a and missense mutation p.R1026W are new mutations of ADAR1 gene, which should be useful in genetic counseling and prenatal diagnosis for the affected families and expanding the database on ADAR1 gene mutations in DSH. 20300939 2010
dbSNP: rs884618
rs884618
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASDB Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). 21738479 2011
dbSNP: rs145588689
rs145588689
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		C 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122822
rs398122822
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122822
rs398122822
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122822
rs398122822
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 CausalMutation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122892
rs398122892
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122892
rs398122892
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122893
rs398122893
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		T 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122893
rs398122893
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122894
rs398122894
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		0.800 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122894
rs398122894
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		G 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
dbSNP: rs398122895
rs398122895
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		A 0.800 GeneticVariation CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012