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GENE - TERM ANNOTATION REPORT

CRRD ID: 3461
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Pygm
Name: glycogen phosphorylase, muscle associated
Acc ID: DOID:2746
Term: glycogen storage disease V
Definition: Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
Definition Source(s): MESH:D006012
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7373291599985CRRDDNA:deletion:exon

 
 ISORGD:7373297240710OMIM  
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

 
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:10450796
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:12508303, PMID:14748827, PMID:17404776, PMID:17994553
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:12929201, PMID:14638972
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:12929201, PMID:14638972, PMID:17324573, PMID:22250184, PMID:23653251
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:14748827
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:15979037, PMID:16786513, PMID:17404776, PMID:18067156, PMID:19670320
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:16786513
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:16786513, PMID:22250184, PMID:9506549
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:17172620, PMID:17994553, PMID:25240406
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:17221871
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:18162322, PMID:19232494, PMID:22250184
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:19670320, PMID:21802952, PMID:25740218, PMID:9506549
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:21880526
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:25741868
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:7951262
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:8316268
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:8535454
 ISORGD:7373298554872ClinVarClinVar Annotator: match by OMIM:232600

PMID:9506549
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:10417800, PMID:21802952, PMID:28492532
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:10450796, PMID:2703328, PMID:8279469, PMID:9152836
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:10590419, PMID:10681080, PMID:11168025, PMID:11706962, PMID:14722619, PMID:17221871, PMID:17994553, PMID:22250184, PMID:25741868, PMID:29143597
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:1067063, PMID:11168025, PMID:11706962, PMID:12223025, PMID:12666117, PMID:14748827, PMID:16786513, PMID:16924035, PMID:17221871, PMID:17324573, PMID:17404776, PMID:17630210, PMID:17915571, PMID:17994553, PMID:20301518, PMID:21802952, PMID:22250184, PMID:22730558, PMID:23653251, PMID:2391551, PMID:24033266, PMID:25240406, PMID:25740218, PMID:25741868, PMID:25873271, PMID:25914343, PMID:28492532, PMID:3458722, PMID:3466902, PMID:3476861, PMID:4513544, PMID:8316268, PMID:8401511, PMID:9131647, PMID:9506549, PMID:9674815
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:10714589, PMID:22250184
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:11168025, PMID:16786513, PMID:17221871, PMID:17324573, PMID:17404776, PMID:17630210, PMID:17994553, PMID:22250184, PMID:22832773, PMID:25240406, PMID:25740218, PMID:28492532, PMID:28967462, PMID:9506549, PMID:9633816
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:11168025, PMID:17221871, PMID:17404776, PMID:17630210, PMID:19251976, PMID:22250184, PMID:22818872, PMID:25741868, PMID:28492532, PMID:8316268
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:11706962
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:11749054, PMID:12031624, PMID:14748827, PMID:16786513, PMID:17404776, PMID:18641458, PMID:19472443, PMID:24033266, PMID:28492532
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:12223025, PMID:12666117, PMID:16924035, PMID:17630210, PMID:17915571, PMID:17994553, PMID:25741868, PMID:25914343, PMID:3458722, PMID:3466902, PMID:4513544, PMID:8316268
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:12398832
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:14568816, PMID:16786513, PMID:17324573, PMID:17705025, PMID:22250184
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:14748827, PMID:17404776
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:16786513, PMID:17221871, PMID:17630210, PMID:21802952, PMID:22250184, PMID:28492532, PMID:29143597
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:16786513, PMID:22250184
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:16786513, PMID:28492532, PMID:8316268
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:16924035, PMID:28492532, PMID:29143597
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:17324573, PMID:22250184
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:17324573, PMID:25525159
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:17324573, PMID:25741868
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:17404776
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:17404776, PMID:25740218, PMID:28492532, PMID:9506549
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:17630210, PMID:17994553, PMID:28492532
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:19251976, PMID:22250184, PMID:25741863, PMID:26913921
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:19472443, PMID:25741868
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:19472443, PMID:28492532
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:19670320, PMID:21802952, PMID:28492532
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:21802952
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:23653251, PMID:28492532
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:25741868, PMID:25987006, PMID:28492532, PMID:28967462
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:25741868, PMID:28492532
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:25741868, PMID:31319225
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:26032558
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:28492532
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:29143597
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:7951262, PMID:9506549
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type V

PMID:8279469
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: McArdle disease, mild

PMID:19433441
 ISORGD:7373298554872ClinVarClinVar Annotator: match by term: McArdle disease, mild

PMID:19433441, PMID:25741868
 ISORGD:73732911554173CTDCTD Direct Evidence: marker/mechanism

PMID:12666117, PMID:18380285
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.