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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking SEPSECS and pontocerebellar hypoplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:40889642 (Homo sapiens)
  • 46 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 5 papers in RGD have been used to annotate SEPSECS
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:31748115 PMID:32555262 PMID:34234304 PMID:35012964 PMID:35155316 PMID:36085396 PMID:9536098


    • An association has been curated linking SEPSECS and pontocerebellar hypoplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11589350 (Homo sapiens)
  • 46 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 5 papers in RGD have been used to annotate SEPSECS
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia
  • Original References(s): PMID:28492532


    • An association has been curated linking SEPSECS and pontocerebellar hypoplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8555616 (Homo sapiens)
  • 46 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 5 papers in RGD have been used to annotate SEPSECS
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia
  • Original References(s): 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:33600046


    • An association has been curated linking SEPSECS and pontocerebellar hypoplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11592035|RGD:11595432|RGD:11596813|RGD:11596925|RGD:11634734|RGD:11635285 (Homo sapiens) & RGD:11592035|RGD:11595432|RGD:11596813|RGD:11596925|RGD:11634734|RGD:11635285 (Homo sapiens) & RGD:11592035|RGD:11595432|RGD:11596813|RGD:11596925|RGD:11634734|RGD:11635285 (Homo sapiens) & RGD:11592035|RGD:11595432|RGD:11596813|RGD:11596925|RGD:11634734|RGD:11635285 (Homo sapiens) & RGD:11592035|RGD:11595432|RGD:11596813|RGD:11596925|RGD:11634734|RGD:11635285 (Homo sapiens) & RGD:11592035|RGD:11595432|RGD:11596813|RGD:11596925|RGD:11634734|RGD:11635285 (Homo sapiens)
  • 46 RGD objects have been annotated to pontocerebellar hypoplasia  (DOID:0060264)
  • 5 papers in RGD have been used to annotate SEPSECS
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia


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