Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 Biomarker disease 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
0.600 Biomarker disease 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
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 25243380 2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 Biomarker disease GENOMICS_ENGLAND Epilepsy in Aicardi-Goutières syndrome. 24011626 2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 CausalMutation disease CLINVAR A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 24262145 2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 CausalMutation disease CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 Biomarker disease 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
0.600 GeneticVariation disease UNIPROT Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 GeneticVariation disease CLINVAR Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 23001123 2012
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 CausalMutation disease CLINVAR Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. 15955093 2005
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 CausalMutation disease CLINVAR Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. 15724015 2005
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.600 CausalMutation disease CLINVAR Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 15146470 2004
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.200 Biomarker disease MGD The AIM2-like Receptors Are Dispensable for the Interferon Response to Intracellular DNA. 27496731 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.200 Biomarker disease MGD Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response. 23972988 2013
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.200 Biomarker disease MGD Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis. 15254239 2004