ADK, adenosine kinase, 132

N. diseases: 102; N. variants: 12
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514452
rs397514452
Entrez Id: 132
Gene Symbol: ADK
ADK
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
dbSNP: rs397514453
rs397514453
Entrez Id: 132;102723439
Gene Symbol: ADK;LOC102723439
ADK;LOC102723439
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
dbSNP: rs397514454
rs397514454
Entrez Id: 132
Gene Symbol: ADK
ADK
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
dbSNP: rs397514452
rs397514452
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C3280381
Disease:
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397514453
rs397514453
Entrez Id: 132;102723439
Gene Symbol: ADK;LOC102723439
ADK;LOC102723439
CUI: C3280381
Disease:
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514454
rs397514454
Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C3280381
Disease:
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY 		A 0.800 CausalMutation CLINVAR