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GENE - TERM ANNOTATION REPORT

RGD ID: 61806
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ecel1
Name: endothelin converting enzyme-like 1
Acc ID: DOID:9008780
Term: Distal Arthrogryposis, Type 5D
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7310787240710OMIM  
 ISORGD:7310788554872ClinVarClinVar Annotator: match by OMIM:615065

PMID:23236030
 ISORGD:7310788554872ClinVarClinVar Annotator: match by OMIM:615065

PMID:23261301
 ISORGD:7310788554872ClinVarClinVar Annotator: match by OMIM:615065

PMID:25741868
 ISORGD:7310788554872ClinVarClinVar Annotator: match by term: Arthrogryposis, distal, type 5d

 
 ISORGD:7310788554872ClinVarClinVar Annotator: match by term: Arthrogryposis, distal, type 5d

PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868
 ISORGD:7310788554872ClinVarClinVar Annotator: match by term: Arthrogryposis, distal, type 5d

PMID:25099528, PMID:25741868
 ISORGD:7310788554872ClinVarClinVar Annotator: match by term: Distal arthrogryposis type 5D

PMID:23236030, 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.