ACADM, acyl-CoA dehydrogenase medium chain, 34

N. diseases: 94; N. variants: 111
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042963
Disease: Vomiting
Vomiting
0.110 GeneticVariation phenotype BEFREE We suggest that in MCADD (1) a newborn screening C8 level of 6micromol/L or greater represents particular risk of sudden death; (2) that MCAD genotypes other than homozygosity for the c.985A>G mutation are also associated with sudden death; (3) that vomiting is a frequent symptom preceding sudden death; and (4) social support and medical follow-up of these families are crucial in reducing the occurrence of sudden death. 20580581 2010
CUI: C0042963
Disease: Vomiting
Vomiting
0.110 Biomarker phenotype HPO