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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking PITX2 and anterior segment dysgenesis 1 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:11543558 (Homo sapiens)
  • 5 RGD objects have been annotated to anterior segment dysgenesis 1  (DOID:0080606)
  • 14 papers in RGD have been used to annotate PITX2
  • Curation Notes: ClinVar Annotator: match by term: Anterior segment dysgenesis 1
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking PITX2 and anterior segment dysgenesis 1 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:9850392 (Homo sapiens)
  • 5 RGD objects have been annotated to anterior segment dysgenesis 1  (DOID:0080606)
  • 14 papers in RGD have been used to annotate PITX2
  • Curation Notes: ClinVar Annotator: match by term: Anterior segment dysgenesis 1
  • Original References(s): PMID:15378534 PMID:26220699


  • An association has been curated linking PITX2 and anterior segment dysgenesis 1 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:11583101|RGD:9693198 (Homo sapiens) & RGD:11583101|RGD:9693198 (Homo sapiens)
  • 5 RGD objects have been annotated to anterior segment dysgenesis 1  (DOID:0080606)
  • 14 papers in RGD have been used to annotate PITX2
  • Curation Notes: ClinVar Annotator: match by term: Anterior segment dysgenesis 1
  • Original References(s): PMID:28492532


  • An association has been curated linking PITX2 and anterior segment dysgenesis 1 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:11543558|RGD:11578920 (Homo sapiens) & RGD:11543558|RGD:11578920 (Homo sapiens)
  • 5 RGD objects have been annotated to anterior segment dysgenesis 1  (DOID:0080606)
  • 14 papers in RGD have been used to annotate PITX2
  • Curation Notes: ClinVar Annotator: match by term: Anterior segment dysgenesis 1
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking PITX2 and anterior segment dysgenesis 1 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:11586156|RGD:11650394|RGD:11652624 (Homo sapiens) & RGD:11586156|RGD:11650394|RGD:11652624 (Homo sapiens) & RGD:11586156|RGD:11650394|RGD:11652624 (Homo sapiens)
  • 5 RGD objects have been annotated to anterior segment dysgenesis 1  (DOID:0080606)
  • 14 papers in RGD have been used to annotate PITX2
  • Curation Notes: ClinVar Annotator: match by term: Anterior segment dysgenesis 1


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