CMA1, chymase 1, 1215

N. diseases: 157; N. variants: 2
Disease: Ketosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022638
Disease: Ketosis
Ketosis 		0.020 Biomarker disease BEFREE A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency. 31380330 2019
CUI: C0022638
Disease: Ketosis
Ketosis 		0.020 Biomarker disease BEFREE Thus, MCT1 deficiency is a novel cause of profound ketoacidosis; the present work suggests that MCT1-mediated ketone-body transport is needed to maintain acid-base balance. 25390740 2014