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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TMEM53 and craniotubular dysplasia Ikegawa type in Chlorocebus sabaeus.        

  • 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 TMEM53 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to craniotubular dysplasia Ikegawa type  (DOID:0112340)
  • 0 papers in RGD have been used to annotate TMEM53


    • An association has been curated linking TMEM53 and craniotubular dysplasia Ikegawa type in Chlorocebus sabaeus.        

  • 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 TMEM53 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to craniotubular dysplasia Ikegawa type  (DOID:0112340)
  • 0 papers in RGD have been used to annotate TMEM53
  • Curation Notes: ClinVar Annotator: match by term: Craniotubular dysplasia, Ikegawa type | ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia
  • Original References(s): PMID:25741868 PMID:33824347


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