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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking MIR126 and Kleefstra syndrome 1 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:26898239 (Homo sapiens)
  • 128 RGD objects have been annotated to Kleefstra syndrome 1  (DOID:0060352)
  • 20 papers in RGD have been used to annotate MIR126
  • Curation Notes: ClinVar Annotator: match by term: Kleefstra syndrome 1
  • Original References(s): PMID:19264732 PMID:27891178 PMID:28492532


  • An association has been curated linking MIR126 and Kleefstra syndrome 1 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:40888258 (Homo sapiens)
  • 128 RGD objects have been annotated to Kleefstra syndrome 1  (DOID:0060352)
  • 20 papers in RGD have been used to annotate MIR126
  • Curation Notes: ClinVar Annotator: match by term: Kleefstra syndrome 1
  • Original References(s): PMID:25741868


  • An association has been curated linking MIR126 and Kleefstra syndrome 1 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:156450545 (Homo sapiens)
  • 128 RGD objects have been annotated to Kleefstra syndrome 1  (DOID:0060352)
  • 20 papers in RGD have been used to annotate MIR126
  • Curation Notes: ClinVar Annotator: match by term: Kleefstra syndrome 1
  • Original References(s): PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758


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