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GENE - TERM ANNOTATION REPORT

RGD ID: 1312162
Species: Mus musculus
RGD Object: Gene
Symbol: Kdelr2
Name: KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
Acc ID: DOID:0112201
Term: osteogenesis imperfecta type 21
Definition: An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/33053334/ "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)
Kdelr2 ISOKDELR2 (Homo sapiens)7240710OMIM  
Kdelr2 ISOKDELR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, type 21PMID:25741868 PMID:33053334 PMID:33964184
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