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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SLC38A5 and X-linked severe congenital neutropenia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:156441068 (Homo sapiens)
  • 94 RGD objects have been annotated to X-linked severe congenital neutropenia  (DOID:0112128)
  • 3 papers in RGD have been used to annotate SLC38A5
  • Curation Notes: ClinVar Annotator: match by term: X-linked severe congenital neutropenia
  • Original References(s): PMID:10698340 PMID:10909851 PMID:12969986 PMID:15284122 PMID:19328743 PMID:22229731 PMID:28492532 PMID:28901403 PMID:8530058 PMID:9476131


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