Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 Biomarker disease GENOMICS_ENGLAND Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening. 31112740 2019
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. 31830945 2019
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases. 28830848 2018
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE Our preliminary results indicate that patients with MSUD presented more commonly in classic form with BCKDHB mutation and displayed extensive brain injury on MRI. 28830848 2018
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE The patient was diagnosed as MSUD.Two novel BCKDHB mutations (c.523 T > C and c.478-25_552del100) were identified. 29366676 2018
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. 29306928 2018
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 CausalMutation disease CLINVAR Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease. 28197878 2017
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease. 28417071 2017
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease. 28197878 2017
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease. 28197878 2017
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR In silico analysis of novel mutations in maple syrup urine disease patients from Iran. 27507644 2017
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. 26830710 2016
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Living related versus deceased donor liver transplantation for maple syrup urine disease. 26786177 2016
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 Biomarker disease BEFREE Different types of disease causing mutations have been previously reported in BCKDHA, BCKDHB, DBT and DLD genes known to be responsible for MSUD phenotype. 26901124 2016
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. 27682710 2016
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 CausalMutation disease CLINVAR Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. 26830710 2016
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 CausalMutation disease CLINVAR Living related versus deceased donor liver transplantation for maple syrup urine disease. 26786177 2016
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease. 26239723 2015
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD). 25381949 2015
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 CausalMutation disease CLINVAR Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis. 26232051 2015
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 Biomarker disease BEFREE In this study, we analyzed the DNA sequences of BCKDHA and BCKDHB genes in an infant who suffered from MSUD and died at the age of 6 months. 25381949 2015
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases. 26453840 2015
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis. 26232051 2015
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases. 26453840 2015