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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking GJC2 and hypomyelinating leukodystrophy 2 in Sus scrofa.        

  • 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)
  • 0 papers in RGD have been used to annotate GJC2


  • An association has been curated linking GJC2 and hypomyelinating leukodystrophy 2 in Sus scrofa.        

  • 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)
  • 0 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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