LIPT1, lipoyltransferase 1, 51601

N. diseases: 55; N. variants: 5
Disease: Inborn Errors of Metabolism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.010 Biomarker group BEFREE Altogether, the data extend the role of LIPT1 in metabolic regulation and demonstrate how integrating genomics and metabolomics can uncover broader aspects of IEM pathophysiology. 31042466 2019