Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
GSD IV, Neuromuscular Form, Childhood
0.600 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2005

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
GSD IV, Neuromuscular Form, Childhood
0.600 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2005

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
GSD IV, Neuromuscular Form, Childhood
0.600 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
GSD IV, Neuromuscular Form, Childhood
0.600 CausalMutation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
GSD IV, Neuromuscular Form, Childhood
0.600 GermlineCausalMutation ORPHANET