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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Hps3 and Hermansky-Pudlak syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Anikster Y, etal., Nat Genet. 2001 Aug;28(4):376-80.
  • The annotation has been inferred from sequence orthology with HPS3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Anikster Y, etal., Nat Genet. 2001 Aug;28(4):376-80.
  • 35 RGD objects have been annotated to Hermansky-Pudlak syndrome  (DOID:3753)
  • 8 papers in RGD have been used to annotate Hps3
  • Curation Notes: DNA:deletion:


    • An association has been curated linking Hps3 and Hermansky-Pudlak syndrome 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 HPS3 (Homo sapiens) [(EXP) inferred from experiment]
  • 35 RGD objects have been annotated to Hermansky-Pudlak syndrome  (DOID:3753)
  • 8 papers in RGD have been used to annotate Hps3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Hps3 and Hermansky-Pudlak syndrome 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 HPS3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to Hermansky-Pudlak syndrome  (DOID:3753)
  • 8 papers in RGD have been used to annotate Hps3
  • Curation Notes: ClinVar Annotator: match by term: Hermansky-Pudlak syndrome
  • Original References(s): PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26575419 PMID:27593200 PMID:28492532 PMID:30387913 PMID:30990103 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:35886065


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