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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ankh and autosomal dominant craniometaphyseal dysplasia in Heterocephalus glaber.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ANKH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant craniometaphyseal dysplasia  (DOID:0080801)
  • 0 papers in RGD have been used to annotate Ankh


    • An association has been curated linking Ankh and autosomal dominant craniometaphyseal dysplasia in Heterocephalus glaber.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with ANKH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant craniometaphyseal dysplasia  (DOID:0080801)
  • 0 papers in RGD have been used to annotate Ankh
  • Curation Notes: ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
  • Original References(s): PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:2712793 PMID:28492532 PMID:31130284


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