ADK, adenosine kinase, 132

N. diseases: 102; N. variants: 12
Disease: Hypermethioninemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		0.120 GeneticVariation phenotype BEFREE Patient 3 was homozygous for a novel missense, c.427T>C (p.Cys143Arg), mutation in ADK, a known gene of adenosine kinase deficiency leading to hypermethioninemia. 30771478 2019
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		0.120 Biomarker phenotype BEFREE Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. 21963049 2011
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		0.120 Biomarker phenotype HPO