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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking GPSM2 and Chudley-Mccullough syndrome in Sus scrofa.        

  • 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 0 papers in RGD have been used to annotate GPSM2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction
  • Original References(s): PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 PMID:23208854 PMID:23494849 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:27312216 PMID:28492532 PMID:32747562


  • An association has been curated linking GPSM2 and Chudley-Mccullough syndrome in Sus scrofa.        

  • 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 0 papers in RGD have been used to annotate GPSM2


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