Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0013421
Disease: Dystonia
Dystonia 		0.440 Biomarker 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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.440 Biomarker 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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.440 Biomarker GENOMICS_ENGLAND Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 25243380

2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0013421
Disease: Dystonia
Dystonia 		0.440 Biomarker GENOMICS_ENGLAND Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012