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GENE - TERM ANNOTATION REPORT

RGD ID: 620518
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Doc2a
Name: double C2 domain alpha
Acc ID: DOID:0112363
Term: spondylocostal dysostosis 5
Definition: A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compund heterozygous mutation in the TBX6 gene on chromosome 16p11.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23335591/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/25564734/ "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)
Doc2a ISODOC2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868
Doc2a ISODOC2A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondylocostal dysostosis 5PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734
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