Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852887
rs137852887
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338671
rs80338671
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.800 GeneticVariation UNIPROT Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2016

dbSNP: rs80338671
rs80338671
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338672
rs80338672
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs137852886
rs137852886
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.700 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs137852889
rs137852889
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.700 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2005

dbSNP: rs137852891
rs137852891
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.700 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2005

dbSNP: rs80338673
rs80338673
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.700 GeneticVariation UNIPROT