MVK, mevalonate kinase, 4598

N. diseases: 139; N. variants: 57
Disease: Liver diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 Biomarker group BEFREE We confirmed the genetic diagnosis of mevalonic aciduria caused by MVK deficiency which had been masked by liver disease and the possible misdiagnosis of alpha-1-antitrypsin deficiency. 31430439 2019