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GENE - TERM ANNOTATION REPORT

RGD ID: 12606277
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pygm
Name: glycogen phosphorylase, muscle associated
Acc ID: DOID:2746
Term: glycogen storage disease V
Definition: A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/ "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)
Pygm ISOPYGM (Homo sapiens)7240710OMIM  
Pygm ISOPYGM (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V | ClinVar Annotator: match by term: McArdle disease, mild | ClinVar Annotator: match by term: Myophosphorylase deficiency | ClinVar Annotator: match by term: PYGM DEFICIENCYPMID:10417800 PMID:10450796 PMID:10590419 PMID:1067063 PMID:10679948 PMID:10681080 PMID:10714589 PMID:11168025 PMID:11706962 PMID:11749054 PMID:12031624 PMID:12118255 PMID:12398832 PMID:12508303 PMID:12929201 PMID:14568816 PMID:14638972 PMID:14722619 PMID:14748827 PMID:15877279 PMID:15979037 PMID:16154688 PMID:16199547 PMID:16786513 PMID:16793208 PMID:16924035 PMID:17172620 PMID:17221871 PMID:17324573 PMID:17404776 PMID:17560787 PMID:17576681 PMID:17630210 PMID:17705025 PMID:17876739 PMID:17915571 PMID:17994553 PMID:18067156 PMID:18162322 PMID:18641458 PMID:19232494 PMID:19251976 PMID:19433441 PMID:19472443 PMID:19670320 PMID:20301518 PMID:20683610 PMID:20957198 PMID:21520335 PMID:21658951 PMID:21802952 PMID:21880526 PMID:22250184 PMID:22608882 PMID:22730558 PMID:22818872 PMID:22832773 PMID:22899091 PMID:23653251 PMID:2391551 PMID:24033266 PMID:24503134 PMID:25044680 PMID:25045239 PMID:25214167 PMID:25240406 PMID:25525159 PMID:25640679 PMID:25740218 PMID:25741863 PMID:25741868 PMID:25873271 PMID:25914343 PMID:25987006 PMID:26032558 PMID:26115788 PMID:26436962 PMID:26633542 PMID:26913921 PMID:26944031 PMID:27032803 PMID:2703328 PMID:27243974 PMID:28492532 PMID:28967462 PMID:29143597 PMID:29382405 PMID:29881221 PMID:29926259 PMID:30011114 PMID:30316539 PMID:30415384 PMID:30560358 PMID:31319225 PMID:31517061 PMID:31589614 PMID:32075227 PMID:32386344 PMID:32735634 PMID:33153458 PMID:33234167 PMID:33837115 PMID:34008892 PMID:34215481 PMID:34373715 PMID:34426522 PMID:34534370 PMID:3476861 PMID:34906502 PMID:35022222 PMID:35628876 PMID:35741838 PMID:37769369 PMID:38374194 PMID:7951211 PMID:7951262 PMID:8279469 PMID:8316268 PMID:8401511 PMID:8535454 PMID:9120482 PMID:9131647 PMID:9152836 PMID:9506549 PMID:9536098 PMID:9633816 PMID:9674815
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