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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Cxcr4 and WHIM syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hernandez PA, etal., Nat Genet 2003 May;34(1):70-4.
  • The annotation has been inferred from sequence orthology with CXCR4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hernandez PA, etal., Nat Genet 2003 May;34(1):70-4.
  • 9 RGD objects have been annotated to WHIM syndrome 1  (DOID:0060591)
  • 103 papers in RGD have been used to annotate Cxcr4
  • Curation Notes: DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)


    • An association has been curated linking Cxcr4 and WHIM syndrome 1 in Rattus norvegicus.        

  • 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 CXCR4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to WHIM syndrome 1  (DOID:0060591)
  • 103 papers in RGD have been used to annotate Cxcr4


    • An association has been curated linking Cxcr4 and WHIM syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CXCR4 (Homo sapiens) [(EXP) inferred from experiment]
  • 9 RGD objects have been annotated to WHIM syndrome 1  (DOID:0060591)
  • 103 papers in RGD have been used to annotate Cxcr4
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:23734232


    • An association has been curated linking Cxcr4 and WHIM syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Cxcr4 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to WHIM syndrome 1  (DOID:0060591)
  • 103 papers in RGD have been used to annotate Cxcr4
  • Curation Notes: OMIM:193670


    • An association has been curated linking Cxcr4 and WHIM syndrome 1 in Rattus norvegicus.        

  • 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 CXCR4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to WHIM syndrome 1  (DOID:0060591)
  • 103 papers in RGD have been used to annotate Cxcr4
  • Curation Notes: ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
  • Original References(s): PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:34573280 PMID:35947323 PMID:36089616


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