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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TFAP2A and Short neck 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:13612076 (Homo sapiens)
  • 416 RGD objects have been annotated to Short neck  (HP:0000470)
  • 6 papers in RGD have been used to annotate TFAP2A
  • Curation Notes: ClinVar Annotator: match by term: Decreased length of neck
  • Original References(s): PMID:25741868


  • An association has been curated linking TFAP2A and Short neck 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
  • 416 RGD objects have been annotated to Short neck  (HP:0000470)
  • 6 papers in RGD have been used to annotate TFAP2A
  • Original References(s): MIM:113620


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