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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking TSEN54 and pontocerebellar hypoplasia in Pan paniscus.        

  • 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 TSEN54 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 31 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 0 papers in RGD have been used to annotate TSEN54
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia
  • Original References(s): PMID:16470708 PMID:17576681 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:23757202 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26701950 PMID:27430971 PMID:27570394 PMID:27884173 PMID:28492532 PMID:29302074 PMID:29410950 PMID:30315573 PMID:32214227 PMID:32404165 PMID:34580403 PMID:9536098


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