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GENE - TERM ANNOTATION REPORT

RGD ID: 731823
Species: Homo sapiens
RGD Object: Gene
Symbol: ECE1
Name: endothelin converting enzyme 1
Acc ID: DOID:9001782
Term: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Definition: null
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)
ECE1susceptibilityIAGP 7240710OMIM  
ECE1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
ECE1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunctionPMID:25741868 PMID:34298581
ECE1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction 
ECE1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunctionPMID:25741868
ECE1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunctionPMID:8530372 PMID:9915973
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