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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Dspp and Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Xiao S, etal., Nat Genet. 2001 Feb;27(2):201-4.
  • The annotation has been inferred from sequence orthology with DSPP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 additional annotations were made from Xiao S, etal., Nat Genet. 2001 Feb;27(2):201-4.
  • 1 RGD objects have been annotated to Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1  (DOID:9003089)
  • 36 papers in RGD have been used to annotate Dspp
  • Curation Notes: DNA:missense mutations:cds:p.P17T, p.V18P (human)


    • An association has been curated linking Dspp and Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 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 DSPP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1  (DOID:9003089)
  • 36 papers in RGD have been used to annotate Dspp


    • An association has been curated linking Dspp and Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 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 DSPP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1  (DOID:9003089)
  • 36 papers in RGD have been used to annotate Dspp
  • Curation Notes: ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
  • Original References(s): PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386


    • An association has been curated linking Dspp and Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 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 DSPP (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1  (DOID:9003089)
  • 36 papers in RGD have been used to annotate Dspp
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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