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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ap3b1 and Hermansky-Pudlak syndrome 2 in Chinchilla lanigera.        

  • 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 AP3B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to Hermansky-Pudlak syndrome 2  (DOID:0060540)
  • 2 papers in RGD have been used to annotate Ap3b1


    • An association has been curated linking Ap3b1 and Hermansky-Pudlak syndrome 2 in Chinchilla lanigera.        

  • 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 AP3B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to Hermansky-Pudlak syndrome 2  (DOID:0060540)
  • 2 papers in RGD have been used to annotate Ap3b1
  • Curation Notes: ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2
  • Original References(s): PMID:10024875 PMID:11809908 PMID:14566336 PMID:16199547 PMID:16507770 PMID:16537806 PMID:16551969 PMID:17576681 PMID:23265383 PMID:23403622 PMID:24033266 PMID:25741868 PMID:25980904 PMID:27781387 PMID:28132693 PMID:28492532 PMID:31898847 PMID:32935436 PMID:33217554 PMID:34170459 PMID:36941763 PMID:8042664 PMID:9536098


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