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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Maml1 and Ehlers-Danlos syndrome dermatosparaxis 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 MAML1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 63 RGD objects have been annotated to Ehlers-Danlos syndrome dermatosparaxis type  (DOID:0080733)
  • 9 papers in RGD have been used to annotate Maml1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type
  • Original References(s): PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 PMID:24819041 PMID:28128410 PMID:28492532 PMID:33389145


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