Disease: Maple Syrup Urine Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852872
rs137852872
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		0.700 GeneticVariation UNIPROT Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene. 21844576 2011
dbSNP: rs137852872
rs137852872
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		0.700 GeneticVariation UNIPROT Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. 7883996 1995
dbSNP: rs137852872
rs137852872
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		0.700 GeneticVariation UNIPROT Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. 8037208 1994
dbSNP: rs137852872
rs137852872
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		0.700 GeneticVariation UNIPROT Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex. 8161368 1993
dbSNP: rs137852872
rs137852872
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		0.700 GeneticVariation UNIPROT Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. 1867199 1991
dbSNP: rs137852872
rs137852872
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		0.700 GeneticVariation UNIPROT Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex. 2060625 1991
dbSNP: rs137852872
rs137852872
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		0.700 GeneticVariation UNIPROT Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex. 1885764 1991
dbSNP: rs137852872
rs137852872
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		0.700 GeneticVariation UNIPROT A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients. 2241958 1990
dbSNP: rs137852872
rs137852872
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease 		0.700 GeneticVariation UNIPROT Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. 2703538 1989