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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Prickle1 and progressive myoclonus epilepsy 1B in Ictidomys tridecemlineatus.        

  • 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 PRICKLE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive myoclonus epilepsy 1B  (DOID:0111448)
  • 0 papers in RGD have been used to annotate Prickle1


    • An association has been curated linking Prickle1 and progressive myoclonus epilepsy 1B in Ictidomys tridecemlineatus.        

  • 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 PRICKLE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to progressive myoclonus epilepsy 1B  (DOID:0111448)
  • 0 papers in RGD have been used to annotate Prickle1
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
  • Original References(s): PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 PMID:21276947 PMID:21901791 PMID:24689077 PMID:25741868 PMID:26378787 PMID:26467025 PMID:28106320 PMID:28492532 PMID:29358611 PMID:29790814 PMID:30564977 PMID:31035234 PMID:31875159 PMID:32214227 PMID:35040250 PMID:9536098


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