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Disease

Glycogen storage disease due to glycogen branching enzyme deficiency

Also known as Andersen Disease (GSD IV), Andersen disease, Andersen's disease, GBE1 glycogen storage disease+30 more

Andersen Disease (GSD IV), Andersen disease, Andersen's disease, GBE1 glycogen storage disease, GSD due to glycogen branching enzyme deficiency, GSD type 4, GSD type IV, amylopectinosis, brancher deficiency glycogenosis, branching-transferase deficiency glycogenosis, deficiency of 1,4-alpha-glucan branching enzyme, glycogen storage disease caused by mutation in GBE1, glycogen storage disease type 4, glycogen storage disease type IV, glycogen storage disease, type IV, glycogenosis due to glycogen branching enzyme deficiency, glycogenosis type 4, glycogenosis type IV, GSD 4, GSD IV, GSD IV, classic hepatic, GSD IV, neuromuscular form, adult, with isolated myopathy, GSD IV, neuromuscular form, childhood, GSD IV, neuromuscular form, congenital, GSD IV, neuromuscular form, fatal perinatal, GSD IV, nonprogressive hepatic, GSD4, Gbe1 deficiency, brancher deficiency, cirrhosis, familial, with deposition of abnormal glycogen, glycogen branching enzyme deficiency, glycogen storage disease 4, glycogen storage disease IV, glycogenosis 4.

3
Associated genes
2
Related proteins

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Associated genes

3 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

Disease biology

2 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Reference

Authoritative identity, definition & identifiers.

Synonyms

Andersen Disease (GSD IV), Andersen disease, Andersen's disease, GBE1 glycogen storage disease, GSD due to glycogen branching enzyme deficiency, GSD type 4, GSD type IV, amylopectinosis, brancher deficiency glycogenosis, branching-transferase deficiency glycogenosis, deficiency of 1,4-alpha-glucan branching enzyme, glycogen storage disease caused by mutation in GBE1, glycogen storage disease type 4, glycogen storage disease type IV, glycogen storage disease, type IV, glycogenosis due to glycogen branching enzyme deficiency, glycogenosis type 4, glycogenosis type IV, GSD 4, GSD IV, GSD IV, classic hepatic, GSD IV, neuromuscular form, adult, with isolated myopathy, GSD IV, neuromuscular form, childhood, GSD IV, neuromuscular form, congenital, GSD IV, neuromuscular form, fatal perinatal, GSD IV, nonprogressive hepatic, GSD4, Gbe1 deficiency, brancher deficiency, cirrhosis, familial, with deposition of abnormal glycogen, glycogen branching enzyme deficiency, glycogen storage disease 4, glycogen storage disease IV, glycogenosis 4

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.