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GENE - TERM ANNOTATION REPORT

RGD ID: 1564010
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Edaradd
Name: EDAR associated via death domain
Acc ID: DOID:0111663
Term: ectodermal dysplasia 10A
Definition: A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10431241 "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)
Edaradd ISOEDARADD (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Edaradd ISOEDARADD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominantPMID:11780064 PMID:17354266 PMID:20222921 PMID:9245989
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