ADK, adenosine kinase, 132

N. diseases: 102; N. variants: 12
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY ×
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