PGK1, phosphoglycerate kinase 1, 5230

N. diseases: 144; N. variants: 122
Disease: Anemia, Hemolytic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.120 GeneticVariation disease 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: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.120 Biomarker disease BEFREE Because PGK-1 deficiency may cause mental tardy and hemolytic anemia, interaction between anti-dsDNA and PGK-1 may be important in lupus pathogenesis. 16857429 2006
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.120 Biomarker disease HPO