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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Gjc2 and hypomyelinating leukodystrophy 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Henneke M, etal., Neurology. 2008 Mar 4;70(10):748-54. Epub 2007 Dec 19.
  • The annotation has been inferred from sequence orthology with GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Henneke M, etal., Neurology. 2008 Mar 4;70(10):748-54. Epub 2007 Dec 19.
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 2  (DOID:0060787)
  • 16 papers in RGD have been used to annotate Gjc2
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking Gjc2 and hypomyelinating leukodystrophy 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bugiani M, etal., Neurology. 2006 Jul 25;67(2):273-9. Epub 2006 May 17.
  • The annotation has been inferred from sequence orthology with GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bugiani M, etal., Neurology. 2006 Jul 25;67(2):273-9. Epub 2006 May 17.
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 2  (DOID:0060787)
  • 16 papers in RGD have been used to annotate Gjc2
  • Curation Notes: DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)


    • An association has been curated linking Gjc2 and hypomyelinating leukodystrophy 2 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 GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 2  (DOID:0060787)
  • 16 papers in RGD have been used to annotate Gjc2


    • An association has been curated linking Gjc2 and hypomyelinating leukodystrophy 2 in Mus musculus.        

  • 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 GJC2 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 2  (DOID:0060787)
  • 16 papers in RGD have been used to annotate Gjc2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:18571143


    • An association has been curated linking Gjc2 and hypomyelinating leukodystrophy 2 in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Tress O, etal., PLoS Genet. 2011 Jul;7(7):e1002146. doi: 10.1371/journal.pgen.1002146. Epub 2011 Jul 7.
  • 2 additional annotations were made from Tress O, etal., PLoS Genet. 2011 Jul;7(7):e1002146. doi: 10.1371/journal.pgen.1002146. Epub 2011 Jul 7.
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 2  (DOID:0060787)
  • 16 papers in RGD have been used to annotate Gjc2
  • Curation Notes: DNA:missense mutation:cds:p.M282T (mouse)


    • An association has been curated linking Gjc2 and hypomyelinating leukodystrophy 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Uhlenberg B, etal., Am J Hum Genet. 2004 Aug;75(2):251-60. Epub 2004 Jun 10.
  • The annotation has been inferred from sequence orthology with GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Uhlenberg B, etal., Am J Hum Genet. 2004 Aug;75(2):251-60. Epub 2004 Jun 10.
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 2  (DOID:0060787)
  • 16 papers in RGD have been used to annotate Gjc2
  • Curation Notes: DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)


    • An association has been curated linking Gjc2 and hypomyelinating leukodystrophy 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Meyer E, etal., Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.
  • The annotation has been inferred from sequence orthology with GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Meyer E, etal., Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 2  (DOID:0060787)
  • 16 papers in RGD have been used to annotate Gjc2
  • Curation Notes: DNA:snp:5' utr:c.-167A>G (human)


    • An association has been curated linking Gjc2 and hypomyelinating leukodystrophy 2 in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 2  (DOID:0060787)
  • 16 papers in RGD have been used to annotate Gjc2
  • Curation Notes: OMIM:608804


    • An association has been curated linking Gjc2 and hypomyelinating leukodystrophy 2 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 GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 2  (DOID:0060787)
  • 16 papers in RGD have been used to annotate Gjc2
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2
  • Original References(s): PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 PMID:18094336 PMID:20695017 PMID:21246605 PMID:21959080 PMID:22351697 PMID:22669416 PMID:22833003 PMID:23142375 PMID:24374284 PMID:25059390 PMID:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947 PMID:29906362 PMID:31028937 PMID:31912665 PMID:32488064 PMID:32581362 PMID:33190326 PMID:34055681 PMID:34445196 PMID:35807022 PMID:8733901


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