Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.110 GeneticVariation disease BEFREE Mutations in BCS1L, a respiratory chain complex III assembly chaperone, constitute a major cause of mitochondrial complex III deficiency and are associated with GRACILE and Björnstad syndromes. 19162478 2009
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		0.110 GeneticVariation disease CLINVAR Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 17403714 2007