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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking ELN and cutis laxa in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Urban Z, etal., J Invest Dermatol. 2005 Jun;124(6):1193-9.
  • 2 additional annotations were made from Urban Z, etal., J Invest Dermatol. 2005 Jun;124(6):1193-9.
  • 101 RGD objects have been annotated to cutis laxa  (DOID:3144)
  • 50 papers in RGD have been used to annotate ELN
  • Curation Notes: associated with lung diseases; DNA:duplication: :


    • An association has been curated linking ELN and cutis laxa in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hadj-Rabia S, etal., Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36.
  • 2 additional annotations were made from Hadj-Rabia S, etal., Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36.
  • 101 RGD objects have been annotated to cutis laxa  (DOID:3144)
  • 50 papers in RGD have been used to annotate ELN
  • Curation Notes: DNA:deletion mutations:cds:


    • An association has been curated linking ELN and cutis laxa in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Zhang MC, etal., J Biol Chem. 1999 Jan 8;274(2):981-6.
  • 2 additional annotations were made from Zhang MC, etal., J Biol Chem. 1999 Jan 8;274(2):981-6.
  • 101 RGD objects have been annotated to cutis laxa  (DOID:3144)
  • 50 papers in RGD have been used to annotate ELN
  • Curation Notes: DNA:deletions:exon:2012del,2039del(human)


    • An association has been curated linking ELN and cutis laxa in Homo sapiens.        

  • The association was inferred from direct assay (IDA)
    		•  
  • The annotation was made from Sephel GC, etal., J Invest Dermatol. 1989 Jul;93(1):147-53.
  • 2 additional annotations were made from Sephel GC, etal., J Invest Dermatol. 1989 Jul;93(1):147-53.
  • 101 RGD objects have been annotated to cutis laxa  (DOID:3144)
  • 50 papers in RGD have been used to annotate ELN


    • An association has been curated linking ELN and cutis laxa in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Rodriguez-Revenga L, etal., Arch Dermatol. 2004 Sep;140(9):1135-9.
  • 2 additional annotations were made from Rodriguez-Revenga L, etal., Arch Dermatol. 2004 Sep;140(9):1135-9.
  • 101 RGD objects have been annotated to cutis laxa  (DOID:3144)
  • 50 papers in RGD have been used to annotate ELN


    • An association has been curated linking ELN and cutis laxa in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 101 RGD objects have been annotated to cutis laxa  (DOID:3144)
  • 50 papers in RGD have been used to annotate ELN
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:12189163


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