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GENE - TERM ANNOTATION REPORT

37 Annotations Found.

An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480908 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:19253388 PMID:25741868


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042894 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:22982301 PMID:25741868


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042872 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:19241098 PMID:19471977


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480949 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:19428276 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042906 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:22867051


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480912 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:18790821 PMID:19793311


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042893 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:21765152 PMID:23151060


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9589222 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:19241098


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480971 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:15917271


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9589214 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:18063413 PMID:18790821


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:8598689 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:15499549 PMID:22430159


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042908 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:22670143


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042889 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:19471977 PMID:19807736 PMID:21293276


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042884 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:19455595


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9589217 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:15492925 PMID:16199547 PMID:22872100 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480917 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:15689447 PMID:19780792 PMID:22872100 PMID:25741868 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480923 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:15492925


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9589228 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:16199547 PMID:19793311 PMID:22872100 PMID:28492532 PMID:33436160


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:8598688 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:15499549 PMID:25741868


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042904 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:23064044 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480918 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:18063413 PMID:19241098 PMID:21318334 PMID:22678952 PMID:22872100 PMID:25741868 PMID:27599155 PMID:28492532 PMID:33436160


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:8598691 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:17993579 PMID:19780792 PMID:19793311 PMID:22678952 PMID:25741868 PMID:25819767 PMID:27848944 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480938 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:15917271 PMID:22872100 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480960 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:18809835 PMID:19362436 PMID:19793311 PMID:21770923 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22872100 PMID:25657822 PMID:25741868 PMID:26271793 PMID:26482601 PMID:26993267 PMID:28492532 PMID:29100083 PMID:30182498 PMID:30460546


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480946 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:15689447 PMID:18414213 PMID:18790821 PMID:22678952 PMID:23151060 PMID:25741868 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480921 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:16611748 PMID:18414213 PMID:19740913 PMID:20493745 PMID:22678952 PMID:22872100 PMID:23238081 PMID:23583054 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31313283


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480955 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:19241098 PMID:23934111 PMID:25741868 PMID:28492532 PMID:31492455 PMID:31780880


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042864 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:22872100 PMID:22982301 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:8598690 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:16813600 PMID:18790821 PMID:25741868 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042876 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:16199547 PMID:22872100 PMID:22982301 PMID:24564546 PMID:28492532 PMID:31487502 PMID:33436160


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480920|RGD:9480966 (Homo sapiens) & RGD:9480920|RGD:9480966 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:21160487


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042857|RGD:10042902 (Homo sapiens) & RGD:10042857|RGD:10042902 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:23151060


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042861|RGD:10042875|RGD:10042899|RGD:10042912|RGD:9589702 (Homo sapiens) & RGD:10042861|RGD:10042875|RGD:10042899|RGD:10042912|RGD:9589702 (Homo sapiens) & RGD:10042861|RGD:10042875|RGD:10042899|RGD:10042912|RGD:9589702 (Homo sapiens) & RGD:10042861|RGD:10042875|RGD:10042899|RGD:10042912|RGD:9589702 (Homo sapiens) & RGD:10042861|RGD:10042875|RGD:10042899|RGD:10042912|RGD:9589702 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:22430159


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042863|RGD:10042865|RGD:10042868|RGD:10042886|RGD:10042891|RGD:10042895|RGD:10042898 (Homo sapiens) & RGD:10042863|RGD:10042865|RGD:10042868|RGD:10042886|RGD:10042891|RGD:10042895|RGD:10042898 (Homo sapiens) & RGD:10042863|RGD:10042865|RGD:10042868|RGD:10042886|RGD:10042891|RGD:10042895|RGD:10042898 (Homo sapiens) & RGD:10042863|RGD:10042865|RGD:10042868|RGD:10042886|RGD:10042891|RGD:10042895|RGD:10042898 (Homo sapiens) & RGD:10042863|RGD:10042865|RGD:10042868|RGD:10042886|RGD:10042891|RGD:10042895|RGD:10042898 (Homo sapiens) & RGD:10042863|RGD:10042865|RGD:10042868|RGD:10042886|RGD:10042891|RGD:10042895|RGD:10042898 (Homo sapiens) & RGD:10042863|RGD:10042865|RGD:10042868|RGD:10042886|RGD:10042891|RGD:10042895|RGD:10042898 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480919 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:18414213 PMID:19161156 PMID:21770923 PMID:22872100 PMID:25741868 PMID:28492532


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:9480925|RGD:9480954 (Homo sapiens) & RGD:9480925|RGD:9480954 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:18790821


  • An association has been curated linking CDKL5 and Rett Syndrome, Atypical 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:10042897|RGD:10042914|RGD:9480934 (Homo sapiens) & RGD:10042897|RGD:10042914|RGD:9480934 (Homo sapiens) & RGD:10042897|RGD:10042914|RGD:9480934 (Homo sapiens)
  • 7 RGD objects have been annotated to Rett Syndrome, Atypical  (DOID:9001325)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Atypical Rett syndrome
  • Original References(s): PMID:16015284


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