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GENE - TERM ANNOTATION REPORT

RGD ID: 14141611
Species: Sus scrofa
RGD Object: Gene
Symbol: HNRNPA2B1
Name: heterogeneous nuclear ribonucleoprotein A2/B1
Acc ID: DOID:0111384
Term: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
Definition: An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23455423 "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)
HNRNPA2B1 ISOHNRNPA2B1 (Homo sapiens)7240710OMIM  
HNRNPA2B1 ISOHNRNPA2B1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 PMID:25741868 PMID:27990297 PMID:28389692 PMID:28492532 PMID:29358076 PMID:35484142 PMID:9536098
HNRNPA2B1 ISOHNRNPA2B1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 PMID:25741868 PMID:28389692 PMID:28492532 PMID:29358076 PMID:9536098
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