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GENE - TERM ANNOTATION REPORT

RGD ID: 1307329
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gle1
Name: GLE1 RNA export mediator
Acc ID: DOID:0060559
Term: lethal congenital contracture syndrome 1
Definition: A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9683599 "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)
Gle1 ISOGLE1 (Homo sapiens)7240710OMIM  
Gle1 ISOGLE1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:18204449
Gle1 ISOGLE1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 PMID:25741868 PMID:28492532 PMID:28884921 PMID:29899397 PMID:32954510 PMID:7770128
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