Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation LHGDN Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. 18378174

2008
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 AlteredExpression LHGDN Among the known mutant alleles, p.Gly278Ser in the BCKDHB gene was relatively frequent and also associated with a mild MSUD variant. 17922217

2007
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation LHGDN Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. 11509994

2001