Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852649
rs137852649
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation UNIPROT Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. 16317551 2006
dbSNP: rs137852649
rs137852649
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation UNIPROT 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. 10832746 2000