PPRC1, PPARG related coactivator 1, 23082

N. diseases: 41; N. variants: 4
Disease: Mitochondrial Respiratory Chain Deficiencies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		0.010 GeneticVariation disease BEFREE Short hairpin RNA-mediated silencing of PRC (PGC-1-related coactivator) results in a severe respiratory chain deficiency associated with the proliferation of aberrant mitochondria. 19036724 2009