Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2198591
Disease: 2-methylbutyrylglycinuria
2-methylbutyrylglycinuria
0.010 GeneticVariation disease BEFREE Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083 2010