Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
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

Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
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