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, Fatal Perinatal
0.500 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, Fatal Perinatal
0.500 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, Fatal Perinatal
0.500 GermlineCausalMutation ORPHANET