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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mpl and Congenital Amegakaryocytic Thrombocytopenia 1 in Heterocephalus glaber.        

  • 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 MPL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Congenital Amegakaryocytic Thrombocytopenia 1  (DOID:9006445)
  • 0 papers in RGD have been used to annotate Mpl
  • Curation Notes: ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia 1
  • Original References(s): PMID:10077649 PMID:10971406 PMID:11071383 PMID:11133753 PMID:11972523 PMID:16470591 PMID:18240171 PMID:18422784 PMID:19036112 PMID:19302922 PMID:20188141 PMID:21225925 PMID:21659346 PMID:23908116 PMID:24119002 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26854587 PMID:28492532 PMID:28859041 PMID:31064749 PMID:31249973 PMID:32581362 PMID:971406


  • An association has been curated linking Mpl and Congenital Amegakaryocytic Thrombocytopenia 1 in Heterocephalus glaber.        

  • 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 MPL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Congenital Amegakaryocytic Thrombocytopenia 1  (DOID:9006445)
  • 0 papers in RGD have been used to annotate Mpl


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