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GENE - TERM ANNOTATION REPORT

RGD ID: 731621
Species: Homo sapiens
RGD Object: Gene
Symbol: VCP
Name: valosin containing protein
Acc ID: DOID:0050881
Term: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Definition: A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. (DO)
Definition Source(s): http://omim.org/entry/167320 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19380227 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21304887 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21892620 "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 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:25884947
VCP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:26467025 PMID:28492532
VCP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaPMID:28492532
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaPMID:15034582 PMID:16790606 PMID:17763460 PMID:19364651 PMID:25326637 PMID:26105173 PMID:28492532
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaPMID:15034582 PMID:19704082 PMID:27538664 PMID:28492532
VCP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaPMID:25741868 PMID:28492532
VCP IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:25741868 PMID:26467025 PMID:28492532
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:16790606 PMID:22137929 PMID:25741868 PMID:26467025 PMID:28130640 PMID:28492532
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:15034582 PMID:18845250 PMID:20604808 PMID:22270372 PMID:22909335 PMID:23333620 PMID:25617006 PMID:25741868 PMID:28492532 PMID:33144514
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaPMID:22078486 PMID:25618255 PMID:25741868 PMID:26467025 PMID:28492532
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:21387114 PMID:21920633 PMID:25617006 PMID:25741868 PMID:28492532
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:26467025 PMID:28492532 PMID:28692196 PMID:29754758 PMID:36980948
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:17576681 PMID:25741868 PMID:27790088 PMID:28492532 PMID:9536098
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaPMID:25741868 PMID:28492532 PMID:30005904
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:22078486 PMID:25741868 PMID:28492532 PMID:30270202
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:26467025 PMID:27790088 PMID:28492532
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaPMID:17576681 PMID:25741868 PMID:28492532 PMID:32028661 PMID:9536098
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:15034582 PMID:16321991 PMID:16984901 PMID:17329348 PMID:18341608 PMID:19237541 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21822278 PMID:22270372 PMID:22686199 PMID:22898872 PMID:23029473 PMID:23169451 PMID:23498975 PMID:24196964 PMID:25125609 PMID:25388089 PMID:25741868 PMID:25775548 PMID:26467025 PMID:28492532 PMID:30293881 PMID:31687228
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:15034582 PMID:16790606 PMID:16984901 PMID:17763460 PMID:19237541 PMID:19364651 PMID:21320982 PMID:22909335 PMID:23029473 PMID:23056506 PMID:25388089 PMID:25741868 PMID:26105173 PMID:27768726 PMID:28360103 PMID:28492532
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:15034582 PMID:17763460 PMID:19364651 PMID:19506019 PMID:20604808 PMID:25741868 PMID:26549226 PMID:28492532 PMID:28692196 PMID:7182974
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementiaPMID:15034582 PMID:19237541 PMID:21145000 PMID:21984748 PMID:22270372 PMID:22900631 PMID:23333620 PMID:23498975 PMID:24196964 PMID:25741868 PMID:26105173 PMID:26467025 PMID:27226613 PMID:27708273 PMID:28360103 PMID:28492532 PMID:28692196 PMID:30279455
VCP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaPMID:15034582 PMID:16247064 PMID:19225410 PMID:19704082 PMID:22078486 PMID:22270372 PMID:24829604 PMID:25492614 PMID:25741868 PMID:26467025 PMID:26555887 PMID:27226613 PMID:28492532 PMID:28542158 PMID:29770363 PMID:30279455 PMID:31848255 PMID:31862442 PMID:32317127 PMID:32528171 PMID:34573259
VCP ISSVcp (Mus musculus)13592920MouseDO  
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