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GENE - TERM ANNOTATION REPORT

RGD ID: 1351297
Species: Homo sapiens
RGD Object: Gene
Symbol: EDARADD
Name: EDAR associated via death domain
Acc ID: DOID:0111653
Term: ectodermal dysplasia 11A
Definition: A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)
Definition Source(s): PMID:17354266 "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 IAGP 7240710OMIM  
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:26440664 PMID:28492532 PMID:34219261
EDARADD IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:25741868 PMID:28492532
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532
EDARADD IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:28492532
EDARADD IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:11780064 PMID:28492532
EDARADD IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:25741868
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:11780064 PMID:25640679 PMID:28492532
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:28492532 PMID:33502802
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:28492532 PMID:34573371
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:11780064 PMID:17354266 PMID:25741868 PMID:9245989
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantPMID:17354266
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