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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pnpla1 and autosomal recessive congenital ichthyosis 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 PNPLA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 51 RGD objects have been annotated to autosomal recessive congenital ichthyosis  (DOID:0060655)
  • 5 papers in RGD have been used to annotate Pnpla1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis
  • Original References(s): PMID:22246504 PMID:24344921 PMID:25741868 PMID:26691440 PMID:26778108 PMID:28093717 PMID:28369476 PMID:28403545 PMID:28492532 PMID:30578701 PMID:32147742 PMID:33786896 PMID:33969388 PMID:35970721 PMID:3757302


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