LIPT1, lipoyltransferase 1, 51601

N. diseases: 55; N. variants: 5
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137891647
rs137891647
Entrez Id: 51601;129531
Gene Symbol: LIPT1;MITD1
LIPT1;MITD1
CUI: C4225379
Disease:
LIPOYLTRANSFERASE 1 DEFICIENCY 		G 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