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GENE - TERM ANNOTATION REPORT

RGD ID: 11862132
Species: Pan paniscus
RGD Object: Gene
Symbol: PHKG2
Name: phosphorylase kinase catalytic subunit gamma 2
Acc ID: DOID:0111043
Term: glycogen storage disease IXC
Definition: A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/6962066 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9384616 "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)
PHKG2 ISOPHKG2 (Homo sapiens)7240710OMIM  
PHKG2 ISOPHKG2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXcPMID:10905889 PMID:12930917 PMID:16199547 PMID:17576681 PMID:17689125 PMID:21646031 PMID:22899091 PMID:24102521 PMID:24389071 PMID:25266922 PMID:2558039 PMID:25741868 PMID:25741914 PMID:27207549 PMID:28492532 PMID:29360628 PMID:31508908 PMID:32697758 PMID:35257483 PMID:35549678 PMID:35834487 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 PMID:9536098
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