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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking KARS1 and Charcot-Marie-Tooth disease recessive intermediate B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13435819 (Homo sapiens)
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease recessive intermediate B  (DOID:0110204)
  • 6 papers in RGD have been used to annotate KARS1
  • Curation Notes: ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B
  • Original References(s): PMID:24033266 PMID:28492532 PMID:30311386


  • An association has been curated linking KARS1 and Charcot-Marie-Tooth disease recessive intermediate B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease recessive intermediate B  (DOID:0110204)
  • 6 papers in RGD have been used to annotate KARS1


  • An association has been curated linking KARS1 and Charcot-Marie-Tooth disease recessive intermediate B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11060064 (Homo sapiens)
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease recessive intermediate B  (DOID:0110204)
  • 6 papers in RGD have been used to annotate KARS1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B
  • Original References(s): PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 PMID:30369941 PMID:31116475


  • An association has been curated linking KARS1 and Charcot-Marie-Tooth disease recessive intermediate B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:15102449|RGD:152153929|RGD:152985239 (Homo sapiens) & RGD:15102449|RGD:152153929|RGD:152985239 (Homo sapiens) & RGD:15102449|RGD:152153929|RGD:152985239 (Homo sapiens)
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease recessive intermediate B  (DOID:0110204)
  • 6 papers in RGD have been used to annotate KARS1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking KARS1 and Charcot-Marie-Tooth disease recessive intermediate B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11088462|RGD:14703670 (Homo sapiens) & RGD:11088462|RGD:14703670 (Homo sapiens)
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease recessive intermediate B  (DOID:0110204)
  • 6 papers in RGD have been used to annotate KARS1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking KARS1 and Charcot-Marie-Tooth disease recessive intermediate B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:10449795|RGD:13525885 (Homo sapiens) & RGD:10449795|RGD:13525885 (Homo sapiens)
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease recessive intermediate B  (DOID:0110204)
  • 6 papers in RGD have been used to annotate KARS1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B


  • An association has been curated linking KARS1 and Charcot-Marie-Tooth disease recessive intermediate B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8560351|RGD:8597799 (Homo sapiens) & RGD:8560351|RGD:8597799 (Homo sapiens)
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease recessive intermediate B  (DOID:0110204)
  • 6 papers in RGD have been used to annotate KARS1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B
  • Original References(s): PMID:20920668


  • An association has been curated linking KARS1 and Charcot-Marie-Tooth disease recessive intermediate B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11060064 (Homo sapiens)
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease recessive intermediate B  (DOID:0110204)
  • 6 papers in RGD have been used to annotate KARS1
  • Curation Notes: ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B
  • Original References(s): PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475


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