GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Disease: POLYGLUCOSAN BODY MYOPATHY 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143137713
rs143137713
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		C 0.800 GeneticVariation CLINVAR Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. 27718144 2017
dbSNP: rs143137713
rs143137713
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		0.800 GeneticVariation UNIPROT A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
dbSNP: rs143137713
rs143137713
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		C 0.800 GeneticVariation CLINVAR A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
dbSNP: rs143137713
rs143137713
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs727502871
rs727502871
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		T 0.700 CausalMutation CLINVAR Polyglucosan myopathy and functional characterization of a novel GYG1 mutation. 29143313 2018
dbSNP: rs727502871
rs727502871
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		T 0.700 CausalMutation CLINVAR Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle. 28453664 2017
dbSNP: rs727502871
rs727502871
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		T 0.700 CausalMutation CLINVAR Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. 29264399 2017
dbSNP: rs200947378
rs200947378
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		0.700 GeneticVariation UNIPROT A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
dbSNP: rs727502871
rs727502871
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		T 0.700 CausalMutation CLINVAR Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 20357282 2010
dbSNP: rs1559834349
rs1559834349
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs370652040
rs370652040
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs727502869
rs727502869
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs727502870
rs727502870
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
CUI: C4015452
Disease:
POLYGLUCOSAN BODY MYOPATHY 2 		A 0.700 CausalMutation CLINVAR