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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking GAGE1 and congenital disorder of glycosylation type IIm 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:126739217|RGD:156436370|RGD:156441069 (Homo sapiens) & RGD:126739217|RGD:156436370|RGD:156441069 (Homo sapiens) & RGD:126739217|RGD:156436370|RGD:156441069 (Homo sapiens)
  • 91 RGD objects have been annotated to congenital disorder of glycosylation type IIm  (DOID:0070265)
  • 1 papers in RGD have been used to annotate GAGE1
  • Curation Notes: ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG
  • Original References(s): PMID:28492532


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