Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.440 Biomarker phenotype GENOMICS_ENGLAND Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. 28139822 2016
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.440 GeneticVariation phenotype BEFREE Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. 28139822 2016
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.440 Biomarker phenotype GENOMICS_ENGLAND Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 25243380 2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.440 Biomarker phenotype BEFREE ADAR1-related disease should be considered in the differential diagnosis of apparently non-syndromic BSN with severe dystonia of varying evolution. 24262145 2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.440 GeneticVariation phenotype BEFREE Aberrant interferon expression occurs in patients in whom ADAR1 mutations cause Aicardi-Goutières syndrome (AGS) or dystonia arising from striatal neurodegeneration. 25456137 2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.440 Biomarker phenotype GENOMICS_ENGLAND Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.440 GeneticVariation phenotype BEFREE The observations in our family raise the possibility that the ADAR1 mutation might be a direct cause or a predisposing factor for heredodegenerative dystonia. 16817193 2006
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.440 Biomarker phenotype HPO