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GENE - TERM ANNOTATION REPORT

RGD ID: 1586637
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ryr1
Name: ryanodine receptor 1
Acc ID: DOID:0111377
Term: fetal akinesia deformation sequence syndrome 1
Definition: A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25537362 "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)
Ryr1 ISORYR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequencePMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885
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