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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Tnpo2 and intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with TNPO2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies  (DOID:0081262)
  • 1 papers in RGD have been used to annotate Tnpo2


    • An association has been curated linking Tnpo2 and intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies in Chinchilla lanigera.        

  • 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 TNPO2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies  (DOID:0081262)
  • 1 papers in RGD have been used to annotate Tnpo2
  • Curation Notes: ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition
  • Original References(s): PMID:25741868 PMID:34314705


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