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: rs121918193
rs121918193
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene. 24427140 2013
dbSNP: rs121918194
rs121918194
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene. 24427140 2013
dbSNP: rs121918196
rs121918196
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene. 24427140 2013
dbSNP: rs121918193
rs121918193
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 22133655 2012
dbSNP: rs121918194
rs121918194
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 22133655 2012
dbSNP: rs121918196
rs121918196
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). 22133655 2012
dbSNP: rs121918193
rs121918193
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. 8889589 1996
dbSNP: rs121918194
rs121918194
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. 8889589 1996
dbSNP: rs121918196
rs121918196
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. 8889589 1996
dbSNP: rs121918193
rs121918193
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. 7825568 1995
dbSNP: rs121918194
rs121918194
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. 7825568 1995
dbSNP: rs121918196
rs121918196
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. 7825568 1995
dbSNP: rs121918193
rs121918193
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 7513946 1994
dbSNP: rs121918194
rs121918194
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 7513946 1994
dbSNP: rs121918196
rs121918196
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		0.800 GeneticVariation UNIPROT Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. 7513946 1994
dbSNP: rs121918193
rs121918193
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121918193
rs121918193
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918194
rs121918194
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121918196
rs121918196
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		T 0.800 CausalMutation CLINVAR
dbSNP: rs767095759
rs767095759
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		G 0.700 CausalMutation CLINVAR Muscle phosphofructokinase deficiency in two generations. 8880699 1996
dbSNP: rs202143236
rs202143236
Entrez Id: 5213;102466657
Gene Symbol: PFKM;MIR6505
PFKM;MIR6505
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		A 0.700 CausalMutation 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 Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. 7825568 1995
dbSNP: rs202143236
rs202143236
Entrez Id: 5213;102466657
Gene Symbol: PFKM;MIR6505
PFKM;MIR6505
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		A 0.700 CausalMutation CLINVAR Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. 8037209 1994
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
dbSNP: rs767095759
rs767095759
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017926
Disease:
Glycogen Storage Disease Type VII 		G 0.700 CausalMutation CLINVAR Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. 8037209 1994