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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Myo5a and Griscelli syndrome type 1 in Ictidomys tridecemlineatus.        

  • 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 MYO5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Griscelli syndrome type 1  (DOID:0060832)
  • 0 papers in RGD have been used to annotate Myo5a


    • An association has been curated linking Myo5a and Griscelli syndrome type 1 in Ictidomys tridecemlineatus.        

  • 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 MYO5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Griscelli syndrome type 1  (DOID:0060832)
  • 0 papers in RGD have been used to annotate Myo5a
  • Curation Notes: ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type
  • Original References(s): PMID:10704277 PMID:12058346 PMID:17576681 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32275080 PMID:9207796 PMID:9536098


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