DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
Disease: NADH cytochrome B5 reductase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency. 23995961 2014
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 24516753 2014
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. 23290025 2013
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR The diagnosis of DLD deficiency was possible only after genome-wide linkage analysis, confirmed by a homozygous mutation (p.G229C) in the DLD gene, previously reported in patients with the same geographic origin. 23478190 2013
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation BEFREE The diagnosis of DLD deficiency was possible only after genome-wide linkage analysis, confirmed by a homozygous mutation (p.G229C) in the DLD gene, previously reported in patients with the same geographic origin. 23478190 2013
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells. 21930696 2011
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase. 21558426 2011
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Interaction of E1 and E3 components with the core proteins of the human pyruvate dehydrogenase complex. 20160912 2009
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Cryptic proteolytic activity of dihydrolipoamide dehydrogenase. 17404228 2007
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. 16442803 2006
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. 16770810 2006
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family. 16601893 2006
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. 16770810 2006
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. 15712224 2005
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy. 14765544 2003
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. 12925875 2003
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. 11687750 2002
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.810 CausalMutation CLINVAR Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. 9934985 1999
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. 9934985 1999
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. 10448086 1999
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing. 9540846 1997
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. 8968745 1996
dbSNP: rs121964990
rs121964990
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.810 GeneticVariation UNIPROT Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. 8506365 1993