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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Myo18b and Klippel-Feil syndrome 4 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 MYO18B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Klippel-Feil syndrome 4  (DOID:0080592)
  • 4 papers in RGD have been used to annotate Myo18b


  • An association has been curated linking Myo18b and Klippel-Feil syndrome 4 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 MYO18B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Klippel-Feil syndrome 4  (DOID:0080592)
  • 4 papers in RGD have been used to annotate Myo18b
  • Curation Notes: ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition
  • Original References(s): PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 PMID:26752647 PMID:27858739 PMID:28492532 PMID:31195167 PMID:31230720 PMID:32184166 PMID:32637634 PMID:33179433 PMID:9536098


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