rs397514454, ADK

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
0.800 GeneticVariation UNIPROT Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. 21963049 2011
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
CUI: C3280381
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
0.800 CausalMutation CLINVAR