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GENE - TERM ANNOTATION REPORT

RGD ID: 621595
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Vcp
Name: valosin-containing protein
Acc ID: DOID:0111385
Term: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
Definition: An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15034582 "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)
Vcp ISOVCP (Homo sapiens)7240710OMIM  
Vcp ISOVCP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17763460 PMID:18341608 PMID:18845250 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21320982 PMID:21387114 PMID:21822278 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23029473 PMID:23056506 PMID:23169451 PMID:23333620 PMID:23498975 PMID:24196964 PMID:24829604 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:26105173 PMID:26467025 PMID:26549226 PMID:26555887 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28542158 PMID:28692196 PMID:29770363 PMID:30005904 PMID:30279455 PMID:30293881 PMID:31687228 PMID:31848255 PMID:31862442 PMID:32317127 PMID:32528171 PMID:33144514 PMID:34573259 PMID:7182974
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