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GENE - TERM ANNOTATION REPORT

13 Annotations Found.

An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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 Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:151235517 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
  • Original References(s): PMID:25741868 PMID:30250217


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:401734519 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
  • Original References(s): PMID:25741868 PMID:32759993


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens) & RGD:15040193|RGD:15040194|RGD:151349067|RGD:151727849|RGD:151728813|RGD:155267990|RGD:155268102|RGD:155268290|RGD:243055037|RGD:329353763|RGD:401855727|RGD:401856623|RGD:401940345|RGD:401940346|RGD:405281968|RGD:405705607|RGD:408394107|RGD:597660629|RGD:597861404|RGD:598122388 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | ClinVar Annotator: match by term: USP53-related condition
  • Original References(s): PMID:25741868


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:151235518 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
  • Original References(s): PMID:33075013


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:151235519 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
  • Original References(s): PMID:25741868 PMID:33075013


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:15040186 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
  • Original References(s): PMID:25741868 PMID:34608165


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:156356093|RGD:156393392 (Homo sapiens) & RGD:156356093|RGD:156393392 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: USP53-related condition
  • Original References(s): PMID:28492532


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:151791316 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:15039409 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32124521 PMID:32759993


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:15040187|RGD:15040190 (Homo sapiens) & RGD:15040187|RGD:15040190 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
  • Original References(s): PMID:25741868 PMID:32124521


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:155799549|RGD:155799795 (Homo sapiens) & RGD:155799549|RGD:155799795 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32124521


    • An association has been curated linking USP53 and Progressive Familial Intrahepatic Cholestasis 7 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:152979944|RGD:405008271|RGD:408393645|RGD:597832651 (Homo sapiens) & RGD:152979944|RGD:405008271|RGD:408393645|RGD:597832651 (Homo sapiens) & RGD:152979944|RGD:405008271|RGD:408393645|RGD:597832651 (Homo sapiens) & RGD:152979944|RGD:405008271|RGD:408393645|RGD:597832651 (Homo sapiens)
  • 1 RGD objects have been annotated to Progressive Familial Intrahepatic Cholestasis 7  (DOID:9002460)
  • 3 papers in RGD have been used to annotate USP53
  • Curation Notes: ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss


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