Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Chronic progressive external ophthalmoplegia
0.110 Biomarker disease BEFREE C1QBP deficiency represents an important mitochondrial disorder associated with a clinical spectrum ranging from infantile lactic acidosis to childhood (cardio)myopathy and late-onset progressive external ophthalmoplegia. 28942965 2017
Chronic progressive external ophthalmoplegia
0.110 Biomarker disease HPO