ADK, adenosine kinase, 132

N. diseases: 102; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. 26642971 2016
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.700 Biomarker disease CTD_human Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. 21963049 2011
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.700 GeneticVariation disease UNIPROT Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. 21963049 2011
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.700 GermlineCausalMutation disease ORPHANET Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. 21963049 2011
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		0.700 CausalMutation disease CLINVAR
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 GeneticVariation disease BEFREE Here we describe a case report of a patient with ADK deletion with phenotypes (schizophrenia, parkinsonism, epilepsy) that are predicted when ADK function is disrupted. 29126171 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET Further, overexpression of ADK in transgenic mice was associated with attentional impairments linked to schizophrenia. 22706302 2012
CUI: C0003130
Disease: Anoxia
Anoxia 		0.310 Biomarker phenotype CTD_human Comparative proteomic profiles of the hepatopancreas in Fenneropenaeus chinensis response to hypoxic stress. 19579223 2009
CUI: C0003130
Disease: Anoxia
Anoxia 		0.310 AlteredExpression phenotype LHGDN HIF-1-dependent repression of adenosine kinase attenuates hypoxia-induced vascular leak. 18309031 2008
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0003129
Disease: Anoxemia
Anoxemia 		0.300 Biomarker phenotype CTD_human Comparative proteomic profiles of the hepatopancreas in Fenneropenaeus chinensis response to hypoxic stress. 19579223 2009
CUI: C0242184
Disease: Hypoxia
Hypoxia 		0.300 Biomarker phenotype CTD_human Comparative proteomic profiles of the hepatopancreas in Fenneropenaeus chinensis response to hypoxic stress. 19579223 2009
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		0.300 Biomarker phenotype CTD_human Comparative proteomic profiles of the hepatopancreas in Fenneropenaeus chinensis response to hypoxic stress. 19579223 2009
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.300 Biomarker disease MGD Neonatal hepatic steatosis by disruption of the adenosine kinase gene. 11997462 2002
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.300 Biomarker disease HPO
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.210 AlteredExpression disease BEFREE Importantly, ADK was found to be overexpressed and associated with astrogliosis and spontaneous seizures in rodent models of epilepsy, as well as in human specimen resected from patients with hippocampal sclerosis and temporal lobe epilepsy. 22700220 2012
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.210 Biomarker disease RGD In line with the findings from the rat model, expression of astrocytic ADK was also found to be increased in the hippocampus and temporal cortex of patients with TLE. 21635241 2011
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Insulin induces expression of adenosine kinase gene in rat lymphocytes by signaling through the mitogen-activated protein kinase pathway. 12729803 2003
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic 		0.200 Biomarker disease MGD Neonatal hepatic steatosis by disruption of the adenosine kinase gene. 11997462 2002
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.200 Biomarker phenotype RGD A-134974: a novel adenosine kinase inhibitor, relieves tactile allodynia via spinal sites of action in peripheral nerve injured rats. 11423084 2001
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.200 Biomarker phenotype RGD An adenosine kinase inhibitor attenuates tactile allodynia in a rat model of diabetic neuropathic pain. 9932716 1999