Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease
0.010 AlteredExpression disease BEFREE The mtDNA content was calculated as the difference between the expression levels of a mitochondrial gene (MT-ND1) and a nuclear gene (RPPH1); the amount of mtDNA common deletion was calculated as the difference between expression levels of a deleted (MT-ND4) and an undeleted (MT-ND1) mitochondrial genes. mtDNA content in MJD carriers was similar to that of healthy age-matched controls, whereas the percentage of the common deletion was significantly increased in MJD subjects, and more pronounced in the preclinical stage (p < 0.05). 29679261 2019