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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SBF1 and congenital disorder of glycosylation Ig 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:127244787 (Homo sapiens)
  • 36 RGD objects have been annotated to congenital disorder of glycosylation Ig  (DOID:0080559)
  • 5 papers in RGD have been used to annotate SBF1
  • Curation Notes: ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation
  • Original References(s): PMID:15639192 PMID:28492532 PMID:31481313


    • An association has been curated linking SBF1 and congenital disorder of glycosylation Ig 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:151776062 (Homo sapiens)
  • 36 RGD objects have been annotated to congenital disorder of glycosylation Ig  (DOID:0080559)
  • 5 papers in RGD have been used to annotate SBF1
  • Curation Notes: ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation
  • Original References(s): PMID:28492532


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