rs143137713, GYG1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
POLYGLUCOSAN BODY MYOPATHY 2
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
0.800 GeneticVariation CLINVAR Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. 27718144 2017
POLYGLUCOSAN BODY MYOPATHY 2
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
0.800 GeneticVariation UNIPROT A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
POLYGLUCOSAN BODY MYOPATHY 2
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
0.800 GeneticVariation CLINVAR A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
POLYGLUCOSAN BODY MYOPATHY 2
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
0.800 CausalMutation CLINVAR
GLYCOGEN STORAGE DISEASE XV
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
0.700 GeneticVariation CLINVAR Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. 27718144 2017
GLYCOGEN STORAGE DISEASE XV
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
0.700 GeneticVariation CLINVAR A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
GLYCOGEN STORAGE DISEASE XV
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
0.700 CausalMutation CLINVAR
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.020 GeneticVariation BEFREE This contrasts with the association of the p.Asp102His variant in homozygosity with a severe cardiomyopathy in several cases with an onset age between 30 and 50 years. 31791869 2019
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.020 GeneticVariation BEFREE Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. 27718144 2017