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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:2935
Term: Chediak-Higashi syndrome
Definition: A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome "DO" "DO", PMID:25129365 "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 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chédiak-Higashi syndromePMID:11857544 PMID:28492532 PMID:9215679
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