Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 GeneticVariation phenotype BEFREE All patients presented with muscle weakness or exercise intolerance associated with variants in the electron transfer flavoprotein dehydrogenase gene. 30681493 2019
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 GeneticVariation phenotype BEFREE Late-onset patients with ETFDH mutations can present with proximal muscle weakness and distal sensory neuropathy, which might be a new phenotypic variation, but the precise underlying pathogenesis remains to be elucidated. 26821934 2016
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 GeneticVariation phenotype BEFREE We report a novel mutation in the electron transfer flavoprotein dehydrogenase (EFTDH) gene in an adolescent Chinese patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by muscle weakness as early symptom. 25913573 2015
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 Biomarker phenotype HPO