Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.010 GeneticVariation group BEFREE Protease-resistant EMRE mutants produce uniporter subcomplexes that induce constitutive Ca<sup>2+</sup> leakage into mitochondria, a condition linked to debilitating neuromuscular disorders in humans. 28396416 2017