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GENE - TERM ANNOTATION REPORT

RGD ID: 1560047
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ranbp2
Name: RAN binding protein 2
Acc ID: DOID:0111654
Term: ectodermal dysplasia 11B
Definition: A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11780064 "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)
Ranbp2 ISORANBP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessivePMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532
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