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GENE - TERM ANNOTATION REPORT

RGD ID: 11698710
Species: Pan paniscus
RGD Object: Gene
Symbol: CCBE1
Name: collagen and calcium binding EGF domains 1
Acc ID: DOID:9003821
Term: Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Definition: null
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)
CCBE1 ISOCCBE1 (Homo sapiens)7240710OMIM  
CCBE1 ISOCCBE1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CCBE1-related condition | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 PMID:21778431 PMID:22239599 PMID:23653581 PMID:24033266 PMID:24167460 PMID:25741868 PMID:25814692 PMID:26686525 PMID:27323140 PMID:28073151 PMID:28492532 PMID:28985353 PMID:31345219 PMID:31453292 PMID:32472549 PMID:32629717 PMID:9536098
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