Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119458970
rs119458970
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. 26409463 2016
dbSNP: rs119458970
rs119458970
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. 12815589 2003
dbSNP: rs119458970
rs119458970
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein. 9334218 1997
dbSNP: rs119458970
rs119458970
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		A 0.800 CausalMutation CLINVAR Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. 1430199 1992
dbSNP: rs119458970
rs119458970
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.800 GeneticVariation UNIPROT