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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Ap1s1 and MEDNIK syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Montpetit A, etal., PLoS Genet. 2008 Dec;4(12):e1000296. doi: 10.1371/journal.pgen.1000296. Epub 2008 Dec 5.
  • The annotation has been inferred from sequence orthology with AP1S1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Montpetit A, etal., PLoS Genet. 2008 Dec;4(12):e1000296. doi: 10.1371/journal.pgen.1000296. Epub 2008 Dec 5.
  • 1 RGD objects have been annotated to MEDNIK syndrome  (DOID:0060483)
  • 9 papers in RGD have been used to annotate Ap1s1
  • Curation Notes: DNA:mutation:splice junction:


  • An association has been curated linking Ap1s1 and MEDNIK 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 AP1S1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to MEDNIK syndrome  (DOID:0060483)
  • 9 papers in RGD have been used to annotate Ap1s1


  • An association has been curated linking Ap1s1 and MEDNIK 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 AP1S1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to MEDNIK syndrome  (DOID:0060483)
  • 9 papers in RGD have been used to annotate Ap1s1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:23423674


  • An association has been curated linking Ap1s1 and MEDNIK 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 AP1S1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to MEDNIK syndrome  (DOID:0060483)
  • 9 papers in RGD have been used to annotate Ap1s1
  • Curation Notes: ClinVar Annotator: match by term: Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
  • Original References(s): PMID:23423674 PMID:30244301


  • An association has been curated linking Ap1s1 and MEDNIK 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 AP1S1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to MEDNIK syndrome  (DOID:0060483)
  • 9 papers in RGD have been used to annotate Ap1s1
  • Curation Notes: ClinVar Annotator: match by term: Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
  • Original References(s): PMID:25741868


  • An association has been curated linking Ap1s1 and MEDNIK 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 AP1S1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to MEDNIK syndrome  (DOID:0060483)
  • 9 papers in RGD have been used to annotate Ap1s1
  • Curation Notes: ClinVar Annotator: match by term: Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
  • Original References(s): PMID:19057675 PMID:23423674


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