Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.600 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: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.600 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: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.600 Biomarker GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

2015
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.600 Biomarker GENOMICS_ENGLAND Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 25243380

2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.600 Biomarker GENOMICS_ENGLAND Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 25243380

2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.600 Biomarker GENOMICS_ENGLAND Epilepsy in Aicardi-Goutières syndrome. 24011626

2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.600 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.600 Biomarker 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
CUI: C3539013
Disease: AICARDI-GOUTIERES SYNDROME 6
AICARDI-GOUTIERES SYNDROME 6 		0.600 GeneticVariation UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012