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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking AP4M1 and Hypoplasia of the corpus callosum 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:9850365 (Homo sapiens)
  • 491 RGD objects have been annotated to Hypoplasia of the corpus callosum  (HP:0002079)
  • 5 papers in RGD have been used to annotate AP4M1
  • Curation Notes: ClinVar Annotator: match by term: Corpus callosum hypoplasia
  • Original References(s): PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048


    • An association has been curated linking AP4M1 and Hypoplasia of the corpus callosum 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
  • 491 RGD objects have been annotated to Hypoplasia of the corpus callosum  (HP:0002079)
  • 5 papers in RGD have been used to annotate AP4M1
  • Original References(s): MIM:612936


    • An association has been curated linking AP4M1 and Hypoplasia of the corpus callosum 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
  • 491 RGD objects have been annotated to Hypoplasia of the corpus callosum  (HP:0002079)
  • 5 papers in RGD have been used to annotate AP4M1
  • Original References(s): ORPHA:280763


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