ACADM, acyl-CoA dehydrogenase medium chain, 34

N. diseases: 94; N. variants: 111
Disease: Hypoglycemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434278
rs121434278
Entrez Id: 34
Gene Symbol: ACADM
ACADM
CUI: C0020615
Disease:
Hypoglycemia 		0.010 GeneticVariation BEFREE This novel mutation, G583A, is associated with severe MCAD deficiency causing hypoglycemia or sudden, unexpected neonatal death. 7929823 1994