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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Lemd3 and Buschke-Ollendorff syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Korekawa A, etal., Br J Dermatol. 2012 Apr;166(4):900-3. doi: 10.1111/j.1365-2133.2011.10691.x. Epub 2012 Jan 9.
  • The annotation has been inferred from sequence orthology with LEMD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Korekawa A, etal., Br J Dermatol. 2012 Apr;166(4):900-3. doi: 10.1111/j.1365-2133.2011.10691.x. Epub 2012 Jan 9.
  • 2 RGD objects have been annotated to Buschke-Ollendorff syndrome  (DOID:0111536)
  • 11 papers in RGD have been used to annotate Lemd3
  • Curation Notes: DNA:transversion mutation:intron: c.1921+1G>T(human)


    • An association has been curated linking Lemd3 and Buschke-Ollendorff syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yuste-Chaves M, etal., Pediatr Dermatol. 2011 Jul-Aug;28(4):447-50. doi: 10.1111/j.1525-1470.2010.01206.x. Epub 2010 Jul 29.
  • The annotation has been inferred from sequence orthology with LEMD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yuste-Chaves M, etal., Pediatr Dermatol. 2011 Jul-Aug;28(4):447-50. doi: 10.1111/j.1525-1470.2010.01206.x. Epub 2010 Jul 29.
  • 2 RGD objects have been annotated to Buschke-Ollendorff syndrome  (DOID:0111536)
  • 11 papers in RGD have been used to annotate Lemd3
  • Curation Notes: DNA:nonsense mutation:cds:c.2203C>T(human)


    • An association has been curated linking Lemd3 and Buschke-Ollendorff 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 LEMD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Buschke-Ollendorff syndrome  (DOID:0111536)
  • 11 papers in RGD have been used to annotate Lemd3


    • An association has been curated linking Lemd3 and Buschke-Ollendorff syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zhang Y, etal., Clin Genet. 2009 Jun;75(6):556-61. doi: 10.1111/j.1399-0004.2009.01177.x. Epub 2009 May 5.
  • The annotation has been inferred from sequence orthology with LEMD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Zhang Y, etal., Clin Genet. 2009 Jun;75(6):556-61. doi: 10.1111/j.1399-0004.2009.01177.x. Epub 2009 May 5.
  • 2 RGD objects have been annotated to Buschke-Ollendorff syndrome  (DOID:0111536)
  • 11 papers in RGD have been used to annotate Lemd3
  • Curation Notes: DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)


    • An association has been curated linking Lemd3 and Buschke-Ollendorff syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yadegari M, etal., Arch Dermatol. 2010 Jan;146(1):63-8. doi: 10.1001/archdermatol.2009.320.
  • The annotation has been inferred from sequence orthology with LEMD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yadegari M, etal., Arch Dermatol. 2010 Jan;146(1):63-8. doi: 10.1001/archdermatol.2009.320.
  • 2 RGD objects have been annotated to Buschke-Ollendorff syndrome  (DOID:0111536)
  • 11 papers in RGD have been used to annotate Lemd3
  • Qualifier: no_association


    • An association has been curated linking Lemd3 and Buschke-Ollendorff 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 LEMD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Buschke-Ollendorff syndrome  (DOID:0111536)
  • 11 papers in RGD have been used to annotate Lemd3
  • Curation Notes: ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
  • Original References(s): PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 PMID:17223882 PMID:19438932 PMID:25741868 PMID:27382493 PMID:28434888 PMID:28492532 PMID:9295073


    • An association has been curated linking Lemd3 and Buschke-Ollendorff 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 LEMD3 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Buschke-Ollendorff syndrome  (DOID:0111536)
  • 11 papers in RGD have been used to annotate Lemd3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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