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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Polr3b and hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060797)
  • 9 papers in RGD have been used to annotate Polr3b


  • An association has been curated linking Polr3b and hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 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 POLR3B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  (DOID:0060797)
  • 9 papers in RGD have been used to annotate Polr3b
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
  • Original References(s): PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26011300 PMID:26045207 PMID:26204956 PMID:26478204 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:31969655 PMID:32319736 PMID:32870266


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