Disease: LIPOYLTRANSFERASE 1 DEFICIENCY ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LIPOYLTRANSFERASE 1 DEFICIENCY
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
0.700 CausalMutation CLINVAR Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 24341803 2013