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: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 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: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.800 GermlineCausalMutation ORPHANET Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.800 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: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.800 Biomarker CTD_human Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123

2012
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 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: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation UNIPROT 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
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation UNIPROT Our data add new variants to the repertoire of ADAR mutations in DSH. 15146470

2004
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GeneticVariation UNIPROT The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene. 12916015

2003
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 GermlineCausalMutation ORPHANET The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene. 12916015

2003
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0406775
Disease: Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities 		0.800 Biomarker CTD_human

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
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.540 Biomarker CTD_human ADAR1 expression levels and the RNA editing levels in the 3'-UTR of DHFR in breast cancer tissues were higher than those in adjacent normal tissues. 28188287

2017
Entrez Id: 103
Gene Symbol: ADAR
ADAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.540 GeneticVariation UNIPROT

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