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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking HAX1 and severe congenital neutropenia 3 in Canis lupus familiaris.        

  • 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 HAX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 188 RGD objects have been annotated to severe congenital neutropenia 3  (DOID:0112133)
  • 0 papers in RGD have been used to annotate HAX1


    • An association has been curated linking HAX1 and severe congenital neutropenia 3 in Canis lupus familiaris.        

  • 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 HAX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 188 RGD objects have been annotated to severe congenital neutropenia 3  (DOID:0112133)
  • 0 papers in RGD have been used to annotate HAX1
  • Curation Notes: ClinVar Annotator: match by term: Kostmann syndrome
  • Original References(s): PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 PMID:17576681 PMID:18055975 PMID:18330843 PMID:18337561 PMID:18611981 PMID:19036076 PMID:19118303 PMID:19499579 PMID:20065084 PMID:20177699 PMID:20182745 PMID:20220065 PMID:21108402 PMID:21344642 PMID:22102707 PMID:22624626 PMID:24482108 PMID:25326635 PMID:25741868 PMID:28102861 PMID:28454995 PMID:28492532 PMID:31321910 PMID:31589614 PMID:31980526 PMID:32005694 PMID:32054657 PMID:32581362 PMID:33381479 PMID:33560082 PMID:34134972 PMID:34426522 PMID:34826056 PMID:9536098


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