Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation disease CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083 2010
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083 2010
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 CausalMutation disease CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083 2010
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083 2010
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation disease CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527 2008
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527 2008
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 CausalMutation disease CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527 2008
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. 17883863 2007
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation disease UNIPROT Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. 16317551 2006
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. 16317551 2006
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 CausalMutation disease 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
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation disease 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
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. 12837870 2003
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation disease UNIPROT 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. 10832746 2000
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CLINGEN Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. 11013134 2000
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker disease CTD_human
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease CTD_human 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. 17883863 2007
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		0.100 Biomarker phenotype HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO