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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: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): PMID: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)
EDARADD IAGP 7240710OMIM  
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessivePMID:26991760
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessivePMID:26440664 PMID:28492532 PMID:34219261
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessivePMID:25741868 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 11B, hypohidrotic/hair/tooth type, autosomal recessivePMID:25741868
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessivePMID:28492532
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessivePMID:11212737
EDARADD IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessivePMID:11780064 PMID:17354266 PMID:25741868 PMID:9245989
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