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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ighmbp2 and autosomal dominant distal hereditary motor neuronopathy 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 IGHMBP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy  (DOID:0111198)
  • 12 papers in RGD have been used to annotate Ighmbp2
  • Curation Notes: ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
  • Original References(s): PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 PMID:16199547 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20859832 PMID:22157136 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24342282 PMID:24388491 PMID:25280635 PMID:25439726 PMID:2545169 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26467025 PMID:26709713 PMID:27450922 PMID:28403181 PMID:28492532 PMID:29761130 PMID:30598237 PMID:31020813 PMID:31211173


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