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GENE - TERM ANNOTATION REPORT

RGD ID: 1308062
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sgca
Name: sarcoglycan, alpha
Acc ID: DOID:0110334
Term: osteogenesis imperfecta type 1
Definition: An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/2873381 "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)
Sgca ISOSGCA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type IPMID:17078022 PMID:19344236 PMID:23949819 PMID:25741868 PMID:25944380 PMID:26478226 PMID:28492532 PMID:7695699 PMID:7942841 PMID:8218237 PMID:9016532 PMID:9295084 PMID:9443882
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