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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking LOC101961846 and severe congenital neutropenia 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 ELANE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to severe congenital neutropenia 1  (DOID:0080625)
  • 0 papers in RGD have been used to annotate LOC101961846


  • An association has been curated linking LOC101961846 and severe congenital neutropenia 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 ELANE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to severe congenital neutropenia 1  (DOID:0080625)
  • 0 papers in RGD have been used to annotate LOC101961846
  • Curation Notes: ClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
  • Original References(s): PMID:10581030 PMID:11001877 PMID:11278653 PMID:11675333 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16551967 PMID:16737875 PMID:17053055 PMID:17391497 PMID:17576681 PMID:18028488 PMID:18611981 PMID:19036076 PMID:20049848 PMID:20301705 PMID:20582973 PMID:21425445 PMID:22148006 PMID:22510773 PMID:22758217 PMID:23463630 PMID:24523240 PMID:24616599 PMID:25427142 PMID:25703294 PMID:25741868 PMID:26567890 PMID:28073911 PMID:28492532 PMID:30040071 PMID:30273710 PMID:30386760 PMID:30635825 PMID:31248972 PMID:31321910 PMID:31839986 PMID:3229910 PMID:32581362 PMID:32888943 PMID:33318085 PMID:33942430 PMID:34093558 PMID:34340247 PMID:34573280 PMID:9536098


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