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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PUDP and X-linked ichthyosis 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:401829168 (Homo sapiens)
  • 30 RGD objects have been annotated to X-linked ichthyosis  (DOID:1700)
  • 3 papers in RGD have been used to annotate PUDP
  • Curation Notes: ClinVar Annotator: match by term: Ichthyosis, X-Linked
  • Original References(s): PMID:31690835


    • An association has been curated linking PUDP and X-linked ichthyosis 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:10403319|RGD:10403320|RGD:10403321|RGD:10403322 (Homo sapiens) & RGD:10403319|RGD:10403320|RGD:10403321|RGD:10403322 (Homo sapiens) & RGD:10403319|RGD:10403320|RGD:10403321|RGD:10403322 (Homo sapiens) & RGD:10403319|RGD:10403320|RGD:10403321|RGD:10403322 (Homo sapiens)
  • 30 RGD objects have been annotated to X-linked ichthyosis  (DOID:1700)
  • 3 papers in RGD have been used to annotate PUDP
  • Curation Notes: ClinVar Annotator: match by term: Recessive X-linked ichthyosis
  • Original References(s): PMID:18413370 PMID:3007328 PMID:7208152


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