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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking KRT14 and epidermolysis bullosa simplex generalized type 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:8622220 (Homo sapiens)
  • 19 RGD objects have been annotated to epidermolysis bullosa simplex generalized type  (DOID:0080511)
  • 8 papers in RGD have been used to annotate KRT14
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
  • Original References(s): PMID:11710919


    • An association has been curated linking KRT14 and epidermolysis bullosa simplex generalized type 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:8622195 (Homo sapiens)
  • 19 RGD objects have been annotated to epidermolysis bullosa simplex generalized type  (DOID:0080511)
  • 8 papers in RGD have been used to annotate KRT14
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
  • Original References(s): PMID:11990248


    • An association has been curated linking KRT14 and epidermolysis bullosa simplex generalized type 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:8564364 (Homo sapiens)
  • 19 RGD objects have been annotated to epidermolysis bullosa simplex generalized type  (DOID:0080511)
  • 8 papers in RGD have been used to annotate KRT14
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
  • Original References(s): PMID:10733662


    • An association has been curated linking KRT14 and epidermolysis bullosa simplex generalized type 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:8564354 (Homo sapiens)
  • 19 RGD objects have been annotated to epidermolysis bullosa simplex generalized type  (DOID:0080511)
  • 8 papers in RGD have been used to annotate KRT14
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
  • Original References(s): PMID:1703046 PMID:1720261


    • An association has been curated linking KRT14 and epidermolysis bullosa simplex generalized type 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:8564360 (Homo sapiens)
  • 19 RGD objects have been annotated to epidermolysis bullosa simplex generalized type  (DOID:0080511)
  • 8 papers in RGD have been used to annotate KRT14
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
  • Original References(s): PMID:2365356 PMID:7682883


    • An association has been curated linking KRT14 and epidermolysis bullosa simplex generalized type 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:8622199 (Homo sapiens)
  • 19 RGD objects have been annotated to epidermolysis bullosa simplex generalized type  (DOID:0080511)
  • 8 papers in RGD have been used to annotate KRT14
  • Curation Notes: ClinVar Annotator: match by term: Generalized EBS
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KRT14 and epidermolysis bullosa simplex generalized type 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:151661784|RGD:8622256 (Homo sapiens) & RGD:151661784|RGD:8622256 (Homo sapiens)
  • 19 RGD objects have been annotated to epidermolysis bullosa simplex generalized type  (DOID:0080511)
  • 8 papers in RGD have been used to annotate KRT14
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
  • Original References(s): PMID:25741868


    • An association has been curated linking KRT14 and epidermolysis bullosa simplex generalized type 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:8564355 (Homo sapiens)
  • 19 RGD objects have been annotated to epidermolysis bullosa simplex generalized type  (DOID:0080511)
  • 8 papers in RGD have been used to annotate KRT14
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type
  • Original References(s): PMID:10583131 PMID:10733662 PMID:11331879 PMID:16098032 PMID:16960809 PMID:1717157 PMID:18717745 PMID:20151404 PMID:20301543 PMID:21623745 PMID:25326635 PMID:25741868 PMID:26743602 PMID:28492532 PMID:31957133


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