Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.110 GeneticVariation phenotype BEFREE Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. 29339779 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.110 Biomarker phenotype HPO