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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ryr2 and Microcephalic Osteodysplastic Primordial Dwarfism, Type III in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with RYR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Microcephalic Osteodysplastic Primordial Dwarfism, Type III  (DOID:9003653)
  • 34 papers in RGD have been used to annotate Ryr2
  • Curation Notes: ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE
  • Original References(s): PMID:25351510 PMID:25741868 PMID:28237968 PMID:28492532 PMID:31195250 PMID:32152366 PMID:35668055


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