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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking NUP188 and Sandestig-Stefanova syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to Sandestig-Stefanova syndrome  (DOID:0081272)
  • 2 papers in RGD have been used to annotate NUP188


    • An association has been curated linking NUP188 and Sandestig-Stefanova syndrome 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:127286156 (Homo sapiens)
  • 2 RGD objects have been annotated to Sandestig-Stefanova syndrome  (DOID:0081272)
  • 2 papers in RGD have been used to annotate NUP188
  • Curation Notes: ClinVar Annotator: match by term: Sandestig-stefanova syndrome
  • Original References(s): PMID:25741868 PMID:32275884


    • An association has been curated linking NUP188 and Sandestig-Stefanova syndrome 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:15162356|RGD:15169940|RGD:15194430 (Homo sapiens) & RGD:15162356|RGD:15169940|RGD:15194430 (Homo sapiens) & RGD:15162356|RGD:15169940|RGD:15194430 (Homo sapiens)
  • 2 RGD objects have been annotated to Sandestig-Stefanova syndrome  (DOID:0081272)
  • 2 papers in RGD have been used to annotate NUP188
  • Curation Notes: ClinVar Annotator: match by term: NUP188-related condition
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking NUP188 and Sandestig-Stefanova syndrome 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:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens) & RGD:151233864|RGD:151233865|RGD:153305485|RGD:155968231|RGD:156034644|RGD:156141048|RGD:156166826|RGD:156328691|RGD:243057551|RGD:401727355|RGD:401911163|RGD:401911165|RGD:401916399|RGD:401918491|RGD:401918492|RGD:401918494|RGD:401918496|RGD:401918502|RGD:405256760 (Homo sapiens)
  • 2 RGD objects have been annotated to Sandestig-Stefanova syndrome  (DOID:0081272)
  • 2 papers in RGD have been used to annotate NUP188
  • Curation Notes: ClinVar Annotator: match by term: NUP188-related condition | ClinVar Annotator: match by term: Sandestig-stefanova syndrome
  • Original References(s): PMID:25741868


    • An association has been curated linking NUP188 and Sandestig-Stefanova syndrome 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:21070132|RGD:25317673 (Homo sapiens) & RGD:21070132|RGD:25317673 (Homo sapiens)
  • 2 RGD objects have been annotated to Sandestig-Stefanova syndrome  (DOID:0081272)
  • 2 papers in RGD have been used to annotate NUP188
  • Curation Notes: ClinVar Annotator: match by term: Sandestig-stefanova syndrome
  • Original References(s): PMID:32021605


    • An association has been curated linking NUP188 and Sandestig-Stefanova syndrome 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:12895894|RGD:12896273|RGD:12896399|RGD:12896801 (Homo sapiens) & RGD:12895894|RGD:12896273|RGD:12896399|RGD:12896801 (Homo sapiens) & RGD:12895894|RGD:12896273|RGD:12896399|RGD:12896801 (Homo sapiens) & RGD:12895894|RGD:12896273|RGD:12896399|RGD:12896801 (Homo sapiens)
  • 2 RGD objects have been annotated to Sandestig-Stefanova syndrome  (DOID:0081272)
  • 2 papers in RGD have been used to annotate NUP188
  • Curation Notes: ClinVar Annotator: match by term: Sandestig-stefanova syndrome
  • Original References(s): PMID:24033266 PMID:25741868


    • An association has been curated linking NUP188 and Sandestig-Stefanova syndrome 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:34891719|RGD:34891721|RGD:34891723|RGD:34891725|RGD:34891727 (Homo sapiens) & RGD:34891719|RGD:34891721|RGD:34891723|RGD:34891725|RGD:34891727 (Homo sapiens) & RGD:34891719|RGD:34891721|RGD:34891723|RGD:34891725|RGD:34891727 (Homo sapiens) & RGD:34891719|RGD:34891721|RGD:34891723|RGD:34891725|RGD:34891727 (Homo sapiens) & RGD:34891719|RGD:34891721|RGD:34891723|RGD:34891725|RGD:34891727 (Homo sapiens)
  • 2 RGD objects have been annotated to Sandestig-Stefanova syndrome  (DOID:0081272)
  • 2 papers in RGD have been used to annotate NUP188
  • Curation Notes: ClinVar Annotator: match by term: Sandestig-stefanova syndrome
  • Original References(s): PMID:32275884


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