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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Lig4 and DNA ligase IV deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Nijnik A, etal., J Clin Invest. 2009 Jun;119(6):1696-705. doi: 10.1172/JCI32743. Epub 2009 May 18.
  • The annotation has been inferred from sequence orthology with Lig4 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Nijnik A, etal., J Clin Invest. 2009 Jun;119(6):1696-705. doi: 10.1172/JCI32743. Epub 2009 May 18.
  • 1 RGD objects have been annotated to DNA ligase IV deficiency  (DOID:0060021)
  • 19 papers in RGD have been used to annotate Lig4
  • Curation Notes: DNA:missense mutation: :p.Y288C (mouse)


  • An association has been curated linking Lig4 and DNA ligase IV deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Felgentreff K, etal., J Clin Immunol. 2016 May;36(4):341-53. doi: 10.1007/s10875-016-0266-5. Epub 2016 Apr 11.
  • The annotation has been inferred from sequence orthology with LIG4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Felgentreff K, etal., J Clin Immunol. 2016 May;36(4):341-53. doi: 10.1007/s10875-016-0266-5. Epub 2016 Apr 11.
  • 1 RGD objects have been annotated to DNA ligase IV deficiency  (DOID:0060021)
  • 19 papers in RGD have been used to annotate Lig4
  • Curation Notes: DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)


  • An association has been curated linking Lig4 and DNA ligase IV deficiency 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 LIG4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to DNA ligase IV deficiency  (DOID:0060021)
  • 19 papers in RGD have been used to annotate Lig4


  • An association has been curated linking Lig4 and DNA ligase IV deficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Rucci F, etal., Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3024-9. doi: 10.1073/pnas.0914865107. Epub 2010 Feb 1.
  • The annotation has been inferred from sequence orthology with Lig4 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Rucci F, etal., Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3024-9. doi: 10.1073/pnas.0914865107. Epub 2010 Feb 1.
  • 1 RGD objects have been annotated to DNA ligase IV deficiency  (DOID:0060021)
  • 19 papers in RGD have been used to annotate Lig4
  • Curation Notes: DNA:missense mutation: :p.R278H (mouse)


  • An association has been curated linking Lig4 and DNA ligase IV deficiency in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Lig4 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to DNA ligase IV deficiency  (DOID:0060021)
  • 19 papers in RGD have been used to annotate Lig4
  • Curation Notes: OMIM:606593


  • An association has been curated linking Lig4 and DNA ligase IV deficiency 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 LIG4 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to DNA ligase IV deficiency  (DOID:0060021)
  • 19 papers in RGD have been used to annotate Lig4
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Lig4 and DNA ligase IV deficiency 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 LIG4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to DNA ligase IV deficiency  (DOID:0060021)
  • 19 papers in RGD have been used to annotate Lig4
  • Curation Notes: ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: LIG4-related disorder
  • Original References(s): PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:16358361 PMID:16358631 PMID:16585603 PMID:1779494 PMID:18845326 PMID:21664875 PMID:23337116 PMID:23372718 PMID:24027040 PMID:24033266 PMID:24123394 PMID:24759409 PMID:2489227 PMID:24892279 PMID:2523926 PMID:25239263 PMID:25741868 PMID:26151233 PMID:26608917 PMID:26762768 PMID:27063650 PMID:27577878 PMID:27612988 PMID:27855655 PMID:27893162 PMID:28039949 PMID:28492532 PMID:28866308 PMID:29146883 PMID:30607663 PMID:30719430 PMID:31589614 PMID:31604460 PMID:31696992 PMID:32534991 PMID:34630384 PMID:35592332 PMID:35665709 PMID:35776903 PMID:37004747 PMID:37865086 PMID:5333585 PMID:7063650


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