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GENE - TERM ANNOTATION REPORT

RGD ID: 14000791
Species: Sus scrofa
RGD Object: Gene
Symbol: RYR1
Name: ryanodine receptor 1
Acc ID: DOID:11836
Term: clubfoot
Definition: A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Club_foot "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17610748 "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: Congenital Talipes EquinovarusPMID:16380615 PMID:17033962 PMID:17365175 PMID:17483490 PMID:18253 PMID:18253926 PMID:21911697 PMID:25741868 PMID:28492532 PMID:30611313 PMID:7299413
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