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: rs1554396908
rs1554396908
Entrez Id: 1738
Gene Symbol: DLD
DLD
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		T 0.700 GeneticVariation CLINVAR Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2. 25251739 2014