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GENE - TERM ANNOTATION REPORT

18 Annotations Found.

An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Doherty D, etal., Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10.
  • The annotation has been inferred from sequence orthology with GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 additional annotations were made from Doherty D, etal., Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10.
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by OMIM:604213
  • Original References(s): PMID:21348867, PMID:22578326


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by OMIM:604213
  • Original References(s): PMID:20602914, PMID:22578326


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by OMIM:604213
  • Original References(s): PMID:22578326


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:22578326


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome
  • Original References(s): PMID:22987632, PMID:24033266, PMID:26445815


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: GPSM2-Related Disorders
  • Original References(s): PMID:10449658, PMID:22578326, PMID:23208854, PMID:23494849, PMID:24033266, PMID:25741868


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome
  • Original References(s): PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome
  • Original References(s): PMID:24033266, PMID:25741868, PMID:26467025


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome
  • Original References(s): PMID:24033266, PMID:28492532


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: GPSM2-Related Disorders
  • Original References(s): PMID:22578326, PMID:22987632, PMID:24033266, PMID:25741868


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome
  • Original References(s): PMID:24033266


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome
  • Original References(s): PMID:24033266, PMID:26467025, PMID:28492532


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome
  • Original References(s): PMID:24033266, PMID:25741868


  • An association has been curated linking Gpsm2 and Chudley-Mccullough syndrome 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 GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Chudley-Mccullough syndrome  (DOID:9000177)
  • 7 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: ClinVar Annotator: match by term: Chudley-McCullough syndrome
  • Original References(s): PMID:28492532


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.