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: rs1554400704
rs1554400704
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		C 0.700 GeneticVariation CLINVAR Spectroscopic studies of the characterization of recombinant human dihydrolipoamide dehydrogenase and its site-directed mutants. 7797549 1995
dbSNP: rs1554400704
rs1554400704
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		C 0.700 GeneticVariation CLINVAR Characterization of two site-specifically mutated human dihydrolipoamide dehydrogenases (His-452----Gln and Glu-457----Gln). 1347528 1992