Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 GeneticVariation BEFREE All patients presented with muscle weakness or exercise intolerance associated with variants in the electron transfer flavoprotein dehydrogenase gene. 30681493

2019

Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 GeneticVariation 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

Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 GeneticVariation 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