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: rs188094280
rs188094280
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		A 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
dbSNP: rs188094280
rs188094280
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		A 0.700 GeneticVariation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527 2008