Disease: Maple syrup urine disease, type 1A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias. 27403441 2016
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. 26830710 2016
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Next-generation carrier screening. 23765052 2014
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. 24374108 2014
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Phenylbutyrate therapy for maple syrup urine disease. 21098507 2011
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 GeneticVariation disease CLINVAR Molecular genetics of maple syrup urine disease in the Turkish population. 19480318 2009
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression. 14567968 2004
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. 12888983 2003
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. 14517957 2003
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online. 10694918 1998
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR 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
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		0.100 CausalMutation disease CLINVAR Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. 2703538 1989