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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking NFATC1 and Oculootofacial Dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13506356|RGD:13674045|RGD:13674048 (Homo sapiens) & RGD:13506356|RGD:13674045|RGD:13674048 (Homo sapiens) & RGD:13506356|RGD:13674045|RGD:13674048 (Homo sapiens)
  • 18 RGD objects have been annotated to Oculootofacial Dysplasia  (DOID:9001156)
  • 14 papers in RGD have been used to annotate NFATC1
  • Curation Notes: ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA
  • Original References(s): PMID:25434003


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