Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 43
Gene Symbol: ACHE
ACHE 		0.300 Biomarker group CTD_human Acute effects of copper and mercury on the estuarine fish Pomatoschistus microps: linking biomarkers to behaviour. 19628251 2009
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		0.100 GeneticVariation group CLINVAR Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. 26992325 2016
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		0.100 GeneticVariation group CLINVAR Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951 2014
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		0.100 GeneticVariation group CLINVAR Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. 28545339 2017
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		0.100 CausalMutation group CLINVAR Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. 28545339 2017
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		0.100 CausalMutation group CLINVAR Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. 26992325 2016
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		0.100 CausalMutation group CLINVAR Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951 2014
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		0.100 CausalMutation group CLINVAR Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087 2012
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		0.100 GeneticVariation group CLINVAR Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087 2012
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 CausalMutation group CLINVAR The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria. 23621630 2013
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 CausalMutation group CLINVAR Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. 12916015 2003
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 CausalMutation group CLINVAR Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 15146470 2004
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 CausalMutation group CLINVAR Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. 26802932 2016
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 CausalMutation group CLINVAR A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 24262145 2014
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 CausalMutation group CLINVAR 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 		0.100 CausalMutation group CLINVAR Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 24183309 2013
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 CausalMutation group CLINVAR Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria. 16536805 2006
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 CausalMutation group CLINVAR Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria. 24950769 2014
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group CLINVAR Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. 27052971 2016
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies. 8415621 1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group BEFREE GNAO1 and ADCY5 mutations can also cause paroxysmal movement disorders, often in the context of ongoing motor symptoms. 31353980 2019
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR ADCY5 mutations are another cause of benign hereditary chorea. 26085604 2015
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 CausalMutation group CLINVAR Gα(olf) mutation allows parsing the role of cAMP-dependent and extracellular signal-regulated kinase-dependent signaling in L-3,4-dihydroxyphenylalanine-induced dyskinesia. 22539851 2012
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain. 8511718 1993
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5 		0.170 GeneticVariation group CLINVAR ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. 28511835 2017