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GENE - TERM ANNOTATION REPORT

RGD ID: 2644
Species: Rattus norvegicus
RGD Object: Gene
Symbol: G6pc1
Name: glucose-6-phosphatase catalytic subunit 1
Acc ID: DOID:2749
Term: glycogen storage disease Ia
Definition: A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/8211187/ "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)
G6pc1 ISOG6pc1 (Mus musculus)14695534RGD  
G6pc1 ISOG6PC1 (Homo sapiens)14695549RGDDNA:SNP:exon:727G>T (human) 
G6pc1treatmentISOG6PC1 (Homo sapiens)14695538RGDhuman gene in a mouse model 
G6pc1 ISOG6PC1 (Homo sapiens)7240710OMIM  
G6pc1 ISOG6PC1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
G6pc1 ISOG6PC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GSD Ia | ClinVar Annotator: match by term: Glycogen storage disease type 1A | ClinVar Annotator: match by term: Hepatorenal glycogenosisPMID:10070617 PMID:10094563 PMID:10234610 PMID:10322403 PMID:10447271 PMID:10604148 PMID:10612834 PMID:10737986 PMID:10738525 PMID:10748407 PMID:10797430 PMID:10834516 PMID:10874313 PMID:10944847 PMID:10960498 PMID:11058903 PMID:11058910 PMID:11161844 PMID:11196115 PMID:11310582 PMID:11386847 PMID:11596659 PMID:11739393 PMID:11851840 PMID:11916325 PMID:11949931 PMID:12093795 PMID:12373566 PMID:12713862 PMID:15151508 PMID:15316959 PMID:15455297 PMID:15542400 PMID:15918042 PMID:16199547 PMID:16435186 PMID:17576681 PMID:17607665 PMID:17994282 PMID:18008183 PMID:18083610 PMID:18449899 PMID:19541498 PMID:19762333 PMID:19815695 PMID:20301489 PMID:20509832 PMID:20532819 PMID:21599942 PMID:2172641 PMID:21983240 PMID:22899091 PMID:22909800 PMID:23000067 PMID:23046672 PMID:23312056 PMID:23352793 PMID:23486339 PMID:24033266 PMID:24082139 PMID:24385852 PMID:24565827 PMID:24980439 PMID:25308557 PMID:25333069 PMID:25492228 PMID:25640679 PMID:25741868 PMID:25741905 PMID:25741914 PMID:27511118 PMID:28074886 PMID:28360385 PMID:28397058 PMID:28492532 PMID:28659124 PMID:29374762 PMID:29486517 PMID:29581464 PMID:29750741 PMID:29970488 PMID:30279644 PMID:30890478 PMID:30956637 PMID:31415093 PMID:31508908 PMID:32046761 PMID:32313153 PMID:32772503 PMID:33101979 PMID:33224545 PMID:33258288 PMID:33763395 PMID:34093448 PMID:34258141 PMID:35811762 PMID:36160031 PMID:7525963 PMID:7573034 PMID:7623438 PMID:7655466 PMID:7668282 PMID:7744838 PMID:7814621 PMID:8163185 PMID:8182131 PMID:8211187 PMID:8733042 PMID:8734807 PMID:9001800 PMID:9332655 PMID:9359038 PMID:9506659 PMID:9536098 PMID:9630072 PMID:9700612 PMID:9700613 PMID:9705299
G6pc1 ISSG6pc1 (Mus musculus)13592920MouseDOOMIM:232200 
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