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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11616088
Species: Homo sapiens
RGD Object: Variant
Symbol: CV329145
Name: NM_000088.4(COL1A1):c.3099+7T>C
Acc ID: DOID:4257
Term: Caffey disease
Definition: A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis "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)
CV329145 IAGP 8554872ClinVarClinVar Annotator: match by term: Caffey DiseasePMID:25741868 PMID:26467025 PMID:28492532
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