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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking GH1 and Kowarski Syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Takahashi Y, etal., J Clin Invest. 1997 Sep 1;100(5):1159-65.
  • 2 additional annotations were made from Takahashi Y, etal., J Clin Invest. 1997 Sep 1;100(5):1159-65.
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: DNA:point mutation:exon:p.D122G (human)


    • An association has been curated linking GH1 and Kowarski Syndrome 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:11630731 (Homo sapiens)
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
  • Original References(s): PMID:26467025


    • An association has been curated linking GH1 and Kowarski Syndrome 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:8600052 (Homo sapiens)
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
  • Original References(s): PMID:17519310 PMID:8552145


    • An association has been curated linking GH1 and Kowarski Syndrome 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:8600053 (Homo sapiens)
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
  • Original References(s): PMID:9276733


    • An association has been curated linking GH1 and Kowarski Syndrome 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:8600054 (Homo sapiens)
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
  • Original References(s): PMID:15713716


    • An association has been curated linking GH1 and Kowarski Syndrome 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 Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1


    • An association has been curated linking GH1 and Kowarski Syndrome 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:11641400 (Homo sapiens)
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
  • Original References(s): PMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:26467025 PMID:28492532 PMID:9152628


    • An association has been curated linking GH1 and Kowarski Syndrome 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:8565341 (Homo sapiens)
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
  • Original References(s): PMID:10372722 PMID:10445339 PMID:25741868 PMID:28492532 PMID:34850017 PMID:8530604


    • An association has been curated linking GH1 and Kowarski Syndrome 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
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking GH1 and Kowarski Syndrome 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:11630731 (Homo sapiens)
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
  • Original References(s): PMID:25741868 PMID:26467025


    • An association has been curated linking GH1 and Kowarski Syndrome 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:11581274|RGD:152170087 (Homo sapiens) & RGD:11581274|RGD:152170087 (Homo sapiens)
  • 2 RGD objects have been annotated to Kowarski Syndrome  (DOID:9003177)
  • 50 papers in RGD have been used to annotate GH1
  • Curation Notes: ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
  • Original References(s): PMID:25741868 PMID:28492532


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