ADAR, adenosine deaminase RNA specific, 103

N. diseases: 256; N. variants: 32
Disease: AICARDI-GOUTIERES SYNDROME 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs398122894
rs398122894
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease:
AICARDI-GOUTIERES SYNDROME 6 		G 0.800 CausalMutation CLINVAR