PFKM, phosphofructokinase, muscle, 5213

N. diseases: 58; N. variants: 14
Disease: Glycogen Storage Disease Type VII ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746348793
rs746348793
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		A 0.700 GeneticVariation CLINVAR Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. 7825568 1995
dbSNP: rs746348793
rs746348793
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		A 0.700 GeneticVariation CLINVAR Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. 8037209 1994