# glycogen storage disease II

> human disease

**Wikidata**: [Q1365789](https://www.wikidata.org/wiki/Q1365789)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II)  
**Source**: https://4ort.xyz/entity/glycogen-storage-disease-ii


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. [Source](http://www.patient.co.uk/patientplus/a.htm)
5. Drug Indications Extracted from FAERS
6. UniProt
7. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/0554320e-6a8f-4c39-be7f-99959a8341ee--2019-01-23T17:00:00)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0554320e-6a8f-4c39-be7f-99959a8341ee-2019-01-23T170000.000Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171298/MONDO_0009290)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171298/Orphanet_365)
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)
13. National Library of Israel Names and Subjects Authority File
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)