PFKM, phosphofructokinase, muscle, 5213

N. diseases: 58; N. variants: 14
Disease: Glycogen Storage Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.400 CausalMutation group CLINVAR Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. 9389749 1997
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.400 CausalMutation group CLINVAR Muscle phosphofructokinase deficiency in two generations. 8880699 1996
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.400 CausalMutation group CLINVAR Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. 8037209 1994
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.400 Biomarker group GENOMICS_ENGLAND