Disease: Maple Syrup Urine Disease ×
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 An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene. 31775088 2019
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the <i>BCKDHA, BCKDHB, DBT</i>, and <i>DLD</i> genes. 29740478 2018
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE Six patients (60%) had the classic form of MSUD with BCKDHB mutation, three patients (30%) had the intermittent form (two with BCKDHA mutations and one with DBT mutation), and one patient (10%) had the thiamine-responsive form with DBT mutation. 28830848 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 GeneticVariation disease BEFREE Mutations in the three genes (BCKDHA, BCKDHB and DBT) are associated with MSUD. 29366676 2018
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 GeneticVariation disease CLINVAR Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis. 26901124 2016
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients. 26257134 2015
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. 25255367 2015
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 CausalMutation 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 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 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
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 CausalMutation disease CLINVAR Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients. 26257134 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 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 CausalMutation disease CLINVAR Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β. 22593002 2012
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β. 22593002 2012
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA, BCKDHB and DBT genes, which encode for the E1α, E1β and E2 subunits of the branched-chain α-keto acid dehydrogenase complex, respectively. 22727569 2012
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Analysis of gene mutations in Chinese patients with maple syrup urine disease. 22727569 2012
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Phenylbutyrate therapy for maple syrup urine disease. 21098507 2011
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease UNIPROT Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene. 21844576 2011
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease CLINVAR Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene. 21844576 2011
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 GeneticVariation disease BEFREE In conclusion, we identified two novel missense mutations in the BCKDHA gene in a Chinese patient with MSUD. 22145486 2011