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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking RAB7A and Charcot-Marie-Tooth disease type 2B in Pan paniscus.        

  • 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 RAB7A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2B  (DOID:0110159)
  • 0 papers in RGD have been used to annotate RAB7A


    • An association has been curated linking RAB7A and Charcot-Marie-Tooth disease type 2B in Pan paniscus.        

  • 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 RAB7A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2B  (DOID:0110159)
  • 0 papers in RGD have been used to annotate RAB7A
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B | ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy | ClinVar Annotator: match by term: Peripheral sensory neuropathy, autosomal dominant (PSN)
  • Original References(s): PMID:10636124 PMID:11094113 PMID:12545426 PMID:15455439 PMID:17060578 PMID:17576681 PMID:18272684 PMID:18501189 PMID:19531583 PMID:19651702 PMID:20028791 PMID:21151572 PMID:22971099 PMID:23179371 PMID:23188822 PMID:23458836 PMID:24344282 PMID:24498653 PMID:24521780 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26791407 PMID:27462242 PMID:28492532 PMID:29130394 PMID:32326241 PMID:33846303 PMID:35887194 PMID:9536098


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