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: rs147936696
rs147936696
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: rs147936696
rs147936696
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		A 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
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: rs58639322
rs58639322
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		T 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
dbSNP: rs58639322
rs58639322
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		T 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
dbSNP: rs58639322
rs58639322
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		T 0.700 CausalMutation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527 2008
dbSNP: rs58639322
rs58639322
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		T 0.700 GeneticVariation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527 2008
dbSNP: rs137852649
rs137852649
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
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
dbSNP: rs58639322
rs58639322
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		T 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
dbSNP: rs58639322
rs58639322
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		T 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
dbSNP: rs137852649
rs137852649
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
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