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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Smc1a and Growth Deficiency and Mental Retardation with Facial Dysmorphism 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 SMC1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Growth Deficiency and Mental Retardation with Facial Dysmorphism  (DOID:9002112)
  • 7 papers in RGD have been used to annotate Smc1a
  • Curation Notes: ClinVar Annotator: match by term: Growth deficiency and mental retardation with facial dysmorphism
  • Original References(s): PMID:25574841


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.