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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8557854
Species: Homo sapiens
RGD Object: Variant
Symbol: CV19066
Name: NM_000152.5(GAA):c.-32-13T>G
Acc ID: DOID:2752
Term: glycogen storage disease II
Definition: A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II "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)
CV19066 IAGP 8554872ClinVarClinVar Annotator: match by term: Glycogen storage disease, type IIPMID:11071489 PMID:14695532 PMID:15986226 PMID:16133732 PMID:16433701 PMID:16531044 PMID:16702877 PMID:16917947 PMID:17210890 PMID:17616415 PMID:17643989 PMID:17723315 PMID:18425781 PMID:18607768 PMID:19588081 PMID:20301438 PMID:20350966 PMID:20559845 PMID:21109266 PMID:21228398 PMID:21439876 PMID:21550241 PMID:21967859 PMID:22595200 PMID:22613277 PMID:22676651 PMID:22975760 PMID:23417379 PMID:24008051 PMID:24150945 PMID:24158270 PMID:24245577 PMID:24510945 PMID:24590251 PMID:24844452 PMID:2510307 PMID:25103075 PMID:25356970 PMID:25741868 PMID:25846667 PMID:26231297 PMID:26800218 PMID:27170567 PMID:27189384 PMID:27460347 PMID:27649523 PMID:27708273 PMID:28032299 PMID:28492532 PMID:28694071 PMID:28951071 PMID:29181627 PMID:29326002 PMID:30275481 PMID:30314719 PMID:30564623 PMID:30655185 PMID:30827497 PMID:31086307 PMID:31676142 PMID:31980526 PMID:32012848 PMID:32071926 PMID:32528171 PMID:32721234 PMID:32860008 PMID:34906502 PMID:7668832 PMID:7717400 PMID:7881425 PMID:8558570 PMID:8990003
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