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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Col11a1 and Marshall syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Griffith AJ, etal., Am J Hum Genet. 1998 Apr;62(4):816-23.
  • The annotation has been inferred from sequence orthology with COL11A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Griffith AJ, etal., Am J Hum Genet. 1998 Apr;62(4):816-23.
  • 4 RGD objects have been annotated to Marshall syndrome  (DOID:0111510)
  • 16 papers in RGD have been used to annotate Col11a1
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNP:splice junction:


    • An association has been curated linking Col11a1 and Marshall 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 COL11A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Marshall syndrome  (DOID:0111510)
  • 16 papers in RGD have been used to annotate Col11a1


    • An association has been curated linking Col11a1 and Marshall 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 COL11A1 (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to Marshall syndrome  (DOID:0111510)
  • 16 papers in RGD have been used to annotate Col11a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:9529347


    • An association has been curated linking Col11a1 and Marshall 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 COL11A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Marshall syndrome  (DOID:0111510)
  • 16 papers in RGD have been used to annotate Col11a1
  • Curation Notes: ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome
  • Original References(s): PMID:10486316 PMID:13520885 PMID:17236192 PMID:17576681 PMID:17999364 PMID:19449424 PMID:20513134 PMID:25073711 PMID:25240749 PMID:25741868 PMID:26377240 PMID:26467025 PMID:28492532 PMID:30020262 PMID:32381727 PMID:32578940 PMID:32756486 PMID:32963807 PMID:33951325 PMID:34589056 PMID:34627339 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885


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