ADK, adenosine kinase, 132

N. diseases: 102; N. variants: 12
Disease: Hepatic methionine adenosyltransferase deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1417529866
rs1417529866 		1.000 0.080 10 74394294 missense variant T/C snv 8.0E-06
CUI: C0268621
Disease: Hepatic methionine adenosyltransferase deficiency
Hepatic methionine adenosyltransferase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019