rs398123508, BCKDHA

N. diseases: 1
Disease: Maple Syrup Urine Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Maple Syrup Urine Disease
CUI: C0024776
Disease: Maple Syrup Urine Disease
0.700 GeneticVariation CLINVAR Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis. 26232051 2015
Maple Syrup Urine Disease
CUI: C0024776
Disease: Maple Syrup Urine Disease
0.700 GeneticVariation CLINVAR Mutational spectrum of maple syrup urine disease in Spain. 16786533 2006
Maple Syrup Urine Disease
CUI: C0024776
Disease: Maple Syrup Urine Disease
0.700 GeneticVariation CLINVAR Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. 14517957 2003
Maple Syrup Urine Disease
CUI: C0024776
Disease: Maple Syrup Urine Disease
0.700 GeneticVariation CLINVAR Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease. 9582350 1998