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GENE - TERM ANNOTATION REPORT

RGD ID: 12542099
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Ecel1
Name: endothelin converting enzyme like 1
Acc ID: DOID:9000338
Term: Arthrogryposis
Definition: Persistent flexure or contracture of a joint. 
Definition Source(s): MESH:D001176
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:122462549068941ClinVarClinVar Annotator: match by term: Arthrogryposis multiplex congenita

PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868
 ISSRGD:122462549068941ClinVarClinVar Annotator: match by term: Arthrogryposis multiplex congenita

PMID:25741868
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.