C1QBP, complement C1q binding protein, 708

N. diseases: 111; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy
0.110 Biomarker group 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
CUI: C0026848
Disease: Myopathy
Myopathy
0.110 Biomarker group HPO