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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking KCNQ2 and Global developmental delay 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:10396224 (Homo sapiens)
  • 2152 RGD objects have been annotated to Global developmental delay  (HP:0001263)
  • 5 papers in RGD have been used to annotate KCNQ2
  • Curation Notes: ClinVar Annotator: match by term: Global developmental delay
  • Original References(s): PMID:12754513 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 PMID:28492532 PMID:29760947 PMID:31152295 PMID:31832524 PMID:32139178 PMID:32573669 PMID:32581362 PMID:32917465 PMID:34711204 PMID:35104249


    • An association has been curated linking KCNQ2 and Global developmental delay in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 2152 RGD objects have been annotated to Global developmental delay  (HP:0001263)
  • 5 papers in RGD have been used to annotate KCNQ2
  • Original References(s): ORPHA:439218


    • An association has been curated linking KCNQ2 and Global developmental delay in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 2152 RGD objects have been annotated to Global developmental delay  (HP:0001263)
  • 5 papers in RGD have been used to annotate KCNQ2
  • Original References(s): OMIM:613720


    • An association has been curated linking KCNQ2 and Global developmental delay in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 2152 RGD objects have been annotated to Global developmental delay  (HP:0001263)
  • 5 papers in RGD have been used to annotate KCNQ2
  • Original References(s): OMIM:121200


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