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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking MECP2 and Absent speech 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:9480794 (Homo sapiens)
  • 426 RGD objects have been annotated to Absent speech  (HP:0001344)
  • 23 papers in RGD have been used to annotate MECP2
  • Curation Notes: ClinVar Annotator: match by term: Absent speech development
  • Original References(s): PMID:10767337 PMID:10854091 PMID:11245712 PMID:11524741 PMID:12075485 PMID:12111643 PMID:12180070 PMID:12615169 PMID:16473305 PMID:16690727 PMID:17089071 PMID:17142618 PMID:17387578 PMID:21160487 PMID:21954873 PMID:25741868 PMID:28492532


    • An association has been curated linking MECP2 and Absent speech 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
  • 426 RGD objects have been annotated to Absent speech  (HP:0001344)
  • 23 papers in RGD have been used to annotate MECP2
  • Original References(s): OMIM:300055


    • An association has been curated linking MECP2 and Absent speech 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
  • 426 RGD objects have been annotated to Absent speech  (HP:0001344)
  • 23 papers in RGD have been used to annotate MECP2
  • Original References(s): OMIM:300260


    • An association has been curated linking MECP2 and Absent speech 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
  • 426 RGD objects have been annotated to Absent speech  (HP:0001344)
  • 23 papers in RGD have been used to annotate MECP2
  • Original References(s): ORPHA:778


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