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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Eln and autosomal dominant cutis laxa 1 in Mus musculus.        

  • 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 ELN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant cutis laxa 1  (DOID:0070130)
  • 56 papers in RGD have been used to annotate Eln


  • An association has been curated linking Eln and autosomal dominant cutis laxa 1 in Mus musculus.        

  • 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 ELN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant cutis laxa 1  (DOID:0070130)
  • 56 papers in RGD have been used to annotate Eln
  • Curation Notes: ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1
  • Original References(s): PMID:10942104 PMID:11175284 PMID:12555228 PMID:15955094 PMID:16085695 PMID:16199547 PMID:17576681 PMID:18348261 PMID:19029017 PMID:19282817 PMID:19593948 PMID:19844261 PMID:20600892 PMID:21309044 PMID:23049958 PMID:23401415 PMID:24033266 PMID:25741868 PMID:26483232 PMID:28391405 PMID:28492532 PMID:29501665 PMID:29555671 PMID:29907982 PMID:31577255 PMID:31589614 PMID:5046633 PMID:7884000 PMID:8091333 PMID:9215670 PMID:9215671 PMID:9536098 PMID:9580666 PMID:9873040


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