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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking HSD11B1 and cortisone reductase deficiency 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to cortisone reductase deficiency 2  (DOID:0090140)
  • 24 papers in RGD have been used to annotate HSD11B1


    • An association has been curated linking HSD11B1 and cortisone reductase deficiency 2 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:13216745 (Homo sapiens)
  • 2 RGD objects have been annotated to cortisone reductase deficiency 2  (DOID:0090140)
  • 24 papers in RGD have been used to annotate HSD11B1
  • Curation Notes: ClinVar Annotator: match by term: HSD11B1-related condition
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking HSD11B1 and cortisone reductase deficiency 2 in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Hsd11b1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to cortisone reductase deficiency 2  (DOID:0090140)
  • 24 papers in RGD have been used to annotate HSD11B1
  • Curation Notes: OMIM:614662


    • An association has been curated linking HSD11B1 and cortisone reductase deficiency 2 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:40814506|RGD:9831488 (Homo sapiens) & RGD:40814506|RGD:9831488 (Homo sapiens)
  • 2 RGD objects have been annotated to cortisone reductase deficiency 2  (DOID:0090140)
  • 24 papers in RGD have been used to annotate HSD11B1
  • Curation Notes: ClinVar Annotator: match by term: Cortisone reductase deficiency 2
  • Original References(s): PMID:25741868


    • An association has been curated linking HSD11B1 and cortisone reductase deficiency 2 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:8568918|RGD:8568919 (Homo sapiens) & RGD:8568918|RGD:8568919 (Homo sapiens)
  • 2 RGD objects have been annotated to cortisone reductase deficiency 2  (DOID:0090140)
  • 24 papers in RGD have been used to annotate HSD11B1
  • Curation Notes: ClinVar Annotator: match by term: Cortisone reductase deficiency 2
  • Original References(s): PMID:21325058


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