Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 CausalMutation CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527

2008
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 CausalMutation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527

2008
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 CausalMutation CLINVAR 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. 15615815

2005
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation CLINVAR 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. 15615815

2005