LIPT1, lipoyltransferase 1, 51601

N. diseases: 55; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767568897
rs767568897
Entrez Id: 51601;129531
Gene Symbol: LIPT1;MITD1
LIPT1;MITD1
CUI: C4225379
Disease:
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. 24256811 2014
dbSNP: rs767568897
rs767568897
Entrez Id: 51601;129531
Gene Symbol: LIPT1;MITD1
LIPT1;MITD1
CUI: C4225379
Disease:
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 24341803 2013
dbSNP: rs137973334
rs137973334
Entrez Id: 51601;129531
Gene Symbol: LIPT1;MITD1
LIPT1;MITD1
CUI: C4225379
Disease:
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT
dbSNP: rs137973334
rs137973334
Entrez Id: 51601;129531
Gene Symbol: LIPT1;MITD1
LIPT1;MITD1
CUI: C4225379
Disease:
LIPOYLTRANSFERASE 1 DEFICIENCY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs767568897
rs767568897
Entrez Id: 51601;129531
Gene Symbol: LIPT1;MITD1
LIPT1;MITD1
CUI: C4225379
Disease:
LIPOYLTRANSFERASE 1 DEFICIENCY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs786205156
rs786205156
Entrez Id: 51601;129531
Gene Symbol: LIPT1;MITD1
LIPT1;MITD1
CUI: C4225379
Disease:
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205156
rs786205156
Entrez Id: 51601;129531
Gene Symbol: LIPT1;MITD1
LIPT1;MITD1
CUI: C4225379
Disease:
LIPOYLTRANSFERASE 1 DEFICIENCY 		G 0.800 CausalMutation CLINVAR
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
dbSNP: rs4851189
rs4851189
Entrez Id: 51601;80705
Gene Symbol: LIPT1;TSGA10
LIPT1;TSGA10
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013