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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking NKX3-2 and Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 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:8559954 (Homo sapiens)
  • 1 RGD objects have been annotated to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  (DOID:9008170)
  • 5 papers in RGD have been used to annotate NKX3-2
  • Curation Notes: ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia
  • Original References(s): PMID:20004766


    • An association has been curated linking NKX3-2 and Spondylo-Megaepiphyseal-Metaphyseal Dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  (DOID:9008170)
  • 5 papers in RGD have been used to annotate NKX3-2


    • An association has been curated linking NKX3-2 and Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 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:13807680 (Homo sapiens)
  • 1 RGD objects have been annotated to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  (DOID:9008170)
  • 5 papers in RGD have been used to annotate NKX3-2
  • Curation Notes: ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia
  • Original References(s): PMID:29704686


    • An association has been curated linking NKX3-2 and Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 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:10047515 (Homo sapiens)
  • 1 RGD objects have been annotated to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  (DOID:9008170)
  • 5 papers in RGD have been used to annotate NKX3-2
  • Curation Notes: ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking NKX3-2 and Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 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:126728856 (Homo sapiens)
  • 1 RGD objects have been annotated to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  (DOID:9008170)
  • 5 papers in RGD have been used to annotate NKX3-2
  • Curation Notes: ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia
  • Original References(s): PMID:25741868


    • An association has been curated linking NKX3-2 and Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 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
  • 1 RGD objects have been annotated to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  (DOID:9008170)
  • 5 papers in RGD have been used to annotate NKX3-2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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