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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ARV1 and congenital disorder of glycosylation type IIq 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:156439482 (Homo sapiens)
  • 13 RGD objects have been annotated to congenital disorder of glycosylation type IIq  (DOID:0070269)
  • 3 papers in RGD have been used to annotate ARV1
  • Curation Notes: ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq
  • Original References(s): PMID:24784932 PMID:28492532 PMID:32293671


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