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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking SH3KBP1 and immunodeficiency 61 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to immunodeficiency 61  (DOID:0111999)
  • 4 papers in RGD have been used to annotate SH3KBP1


    • An association has been curated linking SH3KBP1 and immunodeficiency 61 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:14399248 (Homo sapiens)
  • 1 RGD objects have been annotated to immunodeficiency 61  (DOID:0111999)
  • 4 papers in RGD have been used to annotate SH3KBP1
  • Curation Notes: ClinVar Annotator: match by term: Immunodeficiency 61
  • Original References(s): PMID:29636373


    • An association has been curated linking SH3KBP1 and immunodeficiency 61 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:127297826 (Homo sapiens)
  • 1 RGD objects have been annotated to immunodeficiency 61  (DOID:0111999)
  • 4 papers in RGD have been used to annotate SH3KBP1
  • Curation Notes: ClinVar Annotator: match by term: AGMX2
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking SH3KBP1 and immunodeficiency 61 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 1 RGD objects have been annotated to immunodeficiency 61  (DOID:0111999)
  • 4 papers in RGD have been used to annotate SH3KBP1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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