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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Sepsecs and pontocerebellar hypoplasia type 2D in Rattus norvegicus.        

  • 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 SEPSECS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to pontocerebellar hypoplasia type 2D  (DOID:0060270)
  • 5 papers in RGD have been used to annotate Sepsecs


    • An association has been curated linking Sepsecs and pontocerebellar hypoplasia type 2D 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]
  • 3 RGD objects have been annotated to pontocerebellar hypoplasia type 2D  (DOID:0060270)
  • 5 papers in RGD have been used to annotate Sepsecs
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D
  • Original References(s): PMID:12920088 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20920667 PMID:23052947 PMID:23275319 PMID:24305467 PMID:25044680 PMID:25558065 PMID:25590979 PMID:25741868 PMID:25741916 PMID:25880436 PMID:26115735 PMID:26805434 PMID:26888482 PMID:27175728 PMID:27473727 PMID:27576344 PMID:28492532 PMID:29709707 PMID:31130284 PMID:31589614 PMID:31607746 PMID:31748115 PMID:32214227 PMID:32555262 PMID:33600046 PMID:34234304 PMID:34445196 PMID:35012964 PMID:35091508 PMID:35155316 PMID:36085396 PMID:9536098


    • An association has been curated linking Sepsecs and pontocerebellar hypoplasia type 2D 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 SEPSECS (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to pontocerebellar hypoplasia type 2D  (DOID:0060270)
  • 5 papers in RGD have been used to annotate Sepsecs
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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