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GENE - TERM ANNOTATION REPORT

RGD ID: 2375
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col2a1
Name: collagen type II alpha 1 chain
Acc ID: DOID:0080395
Term: orofacial cleft 1
Definition: An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7711723 "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)
Col2a1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Orofacial cleft 1PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532
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