PGK1, phosphoglycerate kinase 1, 5230

N. diseases: 144; N. variants: 122
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group BEFREE Mutations in the gene for this enzyme, PGK1, are associated with PGK deficiency, which is characterized by neurological symptoms, nonhereditary spherocytic hemolytic anemia, and myopathy. 30951021 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group BEFREE Phosphoglycerate kinase-1 deficiency is caused by X-linked recessive mutations in PGK-1 and associated with haemolytic anaemia, rhabdomyolysis, myopathy and nervous system involvement. 30975619 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group BEFREE Phosphoglycerate kinase (PGK) activity was markedly decreased in muscle, and molecular analysis of the PGK1 gene identified the p.T378P mutation that was recently reported in a patient with isolated myopathy. 20151463 2010
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 Biomarker group HPO