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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking CDKL5 and Retinoschisis 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:8598423 (Homo sapiens)
  • 9 RGD objects have been annotated to Retinoschisis  (HP:0030502)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Retinoschisis
  • Original References(s): PMID:10220153 PMID:10234514 PMID:10636740 PMID:16167295 PMID:17515881 PMID:18541843 PMID:20061330 PMID:22245991 PMID:25741868 PMID:26356828 PMID:28221463 PMID:28492532 PMID:28559085 PMID:30652005 PMID:9618178


    • An association has been curated linking CDKL5 and Retinoschisis 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:21405192 (Homo sapiens)
  • 9 RGD objects have been annotated to Retinoschisis  (HP:0030502)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Retinoschisis


    • An association has been curated linking CDKL5 and Retinoschisis 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:8645437 (Homo sapiens)
  • 9 RGD objects have been annotated to Retinoschisis  (HP:0030502)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Retinoschisis
  • Original References(s): PMID:25741868 PMID:28492532 PMID:31456290 PMID:9618178


    • An association has been curated linking CDKL5 and Retinoschisis 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:8645463 (Homo sapiens)
  • 9 RGD objects have been annotated to Retinoschisis  (HP:0030502)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Retinoschisis
  • Original References(s): PMID:17576681 PMID:28492532 PMID:31456290 PMID:9536098 PMID:9618178


    • An association has been curated linking CDKL5 and Retinoschisis 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:8645475 (Homo sapiens)
  • 9 RGD objects have been annotated to Retinoschisis  (HP:0030502)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Retinoschisis
  • Original References(s): PMID:10450864 PMID:15281981 PMID:15937075 PMID:20061330 PMID:24505212 PMID:28492532 PMID:9326935 PMID:9760195


    • An association has been curated linking CDKL5 and Retinoschisis 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:8645419 (Homo sapiens)
  • 9 RGD objects have been annotated to Retinoschisis  (HP:0030502)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Retinoschisis
  • Original References(s): PMID:16361673 PMID:19849666 PMID:23453514 PMID:28492532 PMID:30551202 PMID:9618178


    • An association has been curated linking CDKL5 and Retinoschisis 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:8645440 (Homo sapiens)
  • 9 RGD objects have been annotated to Retinoschisis  (HP:0030502)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Retinoschisis
  • Original References(s): PMID:10636429 PMID:25741868 PMID:28492532 PMID:28559085 PMID:30450322 PMID:30652005 PMID:9618178


    • An association has been curated linking CDKL5 and Retinoschisis 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:8645418 (Homo sapiens)
  • 9 RGD objects have been annotated to Retinoschisis  (HP:0030502)
  • 9 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: Retinoschisis
  • Original References(s): PMID:10220153 PMID:10636421 PMID:16361673 PMID:17576681 PMID:28272453 PMID:28492532 PMID:31456290 PMID:9536098


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