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GENE - TERM ANNOTATION REPORT

RGD ID: 620687
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pygl
Name: glycogen phosphorylase L
Acc ID: DOID:2754
Term: glycogen storage disease VI
Definition: A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI "DO" "DO", http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/25266922/ "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Pygl IAGP 11071447RGDDNA:mutation:multiple 
Pygl IAGP 21079734RGDDNA:SNPs,insertions,deletions:exons,introns:multiple 
Pygl ISOPYGL (Homo sapiens)7240710OMIM  
Pygl ISOPYGL (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:9529348 PMID:9536091
Pygl ISOPYGL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type VI | ClinVar Annotator: match by term: Hepatic glycogen phosphorylase deficiency | ClinVar Annotator: match by term: Hers disease | ClinVar Annotator: match by term: Phosphorylase deficiency glycogen-storage disease of liverPMID:12809646 PMID:16199547 PMID:17576681 PMID:17705025 PMID:20301760 PMID:21646031 PMID:22899091 PMID:24033266 PMID:24082139 PMID:25070466 PMID:25266922 PMID:25640679 PMID:25741868 PMID:25741915 PMID:26526422 PMID:28468868 PMID:28492532 PMID:31508908 PMID:31768638 PMID:32268899 PMID:32505569 PMID:32772503 PMID:32892177 PMID:32961316 PMID:33726816 PMID:33763395 PMID:33782433 PMID:34026552 PMID:35143115 PMID:9529348 PMID:9536091 PMID:9536098
Pygl ISSPygl (Mus musculus)13592920MouseDOOMIM:232700 
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