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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Sepsecs and pontocerebellar hypoplasia type 1B 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 SEPSECS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to pontocerebellar hypoplasia type 1B  (DOID:0060266)
  • 5 papers in RGD have been used to annotate Sepsecs
  • Curation Notes: ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia
  • Original References(s): PMID:17576681 PMID:20920667 PMID:23052947 PMID:23275319 PMID:24305467 PMID:25741868 PMID:25880436 PMID:26888482 PMID:27175728 PMID:27473727 PMID:27576344 PMID:28492532 PMID:29709707 PMID:31589614 PMID:31748115 PMID:32555262 PMID:33600046 PMID:34234304 PMID:35012964 PMID:35155316 PMID:36085396 PMID:9536098


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