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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Shpk and cystinosis in Mus musculus.        

  • 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 SHPK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to cystinosis  (DOID:1064)
  • 5 papers in RGD have been used to annotate Shpk
  • Curation Notes: ClinVar Annotator: match by term: Cystinosin, defect of
  • Original References(s): PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:25741868 PMID:27734949 PMID:9537412 PMID:9792862


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