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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Eif2b5 and Leukoencephalopathies 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 EIF2B5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 598 RGD objects have been annotated to Leukoencephalopathies  (DOID:9002704)
  • 30 papers in RGD have been used to annotate Eif2b5
  • Curation Notes: ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Leukoencephalopathy | ClinVar Annotator: match by term: Myelinosis centralis diffusa
  • Original References(s): PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 PMID:14572143 PMID:14694060 PMID:14993275 PMID:15054402 PMID:15060152 PMID:15136673 PMID:15136689 PMID:15136690 PMID:15507143 PMID:15670229 PMID:15723074 PMID:15776425 PMID:16041584 PMID:16807905 PMID:16864840 PMID:17119336 PMID:17439913 PMID:17646634 PMID:18005052 PMID:18263758 PMID:18266750 PMID:18294360 PMID:18519871 PMID:18678442 PMID:18813718 PMID:18845387 PMID:19023445 PMID:19158808 PMID:19170749 PMID:19531691 PMID:19625339 PMID:19909266 PMID:20016818 PMID:20301435 PMID:20826436 PMID:20958979 PMID:20975056 PMID:21307862 PMID:21560189 PMID:22073122 PMID:22238342 PMID:22430157 PMID:22699478 PMID:22737209 PMID:22952606 PMID:23065789 PMID:24033266 PMID:24482476 PMID:24938145 PMID:25089094 PMID:25230711 PMID:25326635 PMID:25457085 PMID:25525159 PMID:25681447 PMID:25741868 PMID:25761052 PMID:25843247 PMID:25989649 PMID:26112719 PMID:26467025 PMID:26506339 PMID:26626314 PMID:26671108 PMID:26901872 PMID:27651498 PMID:27665184 PMID:27779215 PMID:28306143 PMID:28334938 PMID:28492532 PMID:28914269 PMID:28939701 PMID:28953922 PMID:29933199 PMID:29995139 PMID:30315562 PMID:30755392 PMID:31418856 PMID:32293553 PMID:33432707 PMID:34745209 PMID:34751098 PMID:35389136


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