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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Tmem53 and craniotubular dysplasia Ikegawa type in Rattus norvegicus.        

  • 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)
  • 1 papers in RGD have been used to annotate Tmem53


  • An association has been curated linking Tmem53 and craniotubular dysplasia Ikegawa type in Rattus norvegicus.        

  • 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)
  • 1 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


  • An association has been curated linking Tmem53 and craniotubular dysplasia Ikegawa type in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Tmem53 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to craniotubular dysplasia Ikegawa type  (DOID:0112340)
  • 1 papers in RGD have been used to annotate Tmem53
  • Curation Notes: OMIM:619727


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