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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking INPP5K and congenital muscular dystrophy with cataracts and intellectual disability 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 congenital muscular dystrophy with cataracts and intellectual disability  (DOID:0080197)
  • 3 papers in RGD have been used to annotate INPP5K


    • An association has been curated linking INPP5K and congenital muscular dystrophy with cataracts and intellectual disability 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:15191604 (Homo sapiens)
  • 1 RGD objects have been annotated to congenital muscular dystrophy with cataracts and intellectual disability  (DOID:0080197)
  • 3 papers in RGD have been used to annotate INPP5K
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking INPP5K and congenital muscular dystrophy with cataracts and intellectual disability in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 1 RGD objects have been annotated to congenital muscular dystrophy with cataracts and intellectual disability  (DOID:0080197)
  • 3 papers in RGD have been used to annotate INPP5K
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking INPP5K and congenital muscular dystrophy with cataracts and intellectual disability 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:12892688 (Homo sapiens)
  • 1 RGD objects have been annotated to congenital muscular dystrophy with cataracts and intellectual disability  (DOID:0080197)
  • 3 papers in RGD have been used to annotate INPP5K
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability
  • Original References(s): PMID:25741868 PMID:28190459 PMID:33792664


    • An association has been curated linking INPP5K and congenital muscular dystrophy with cataracts and intellectual disability 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:12892670|RGD:12892686 (Homo sapiens) & RGD:12892670|RGD:12892686 (Homo sapiens)
  • 1 RGD objects have been annotated to congenital muscular dystrophy with cataracts and intellectual disability  (DOID:0080197)
  • 3 papers in RGD have been used to annotate INPP5K
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability
  • Original References(s): PMID:28190456


    • An association has been curated linking INPP5K and congenital muscular dystrophy with cataracts and intellectual disability 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:155644545|RGD:155644546 (Homo sapiens) & RGD:155644545|RGD:155644546 (Homo sapiens)
  • 1 RGD objects have been annotated to congenital muscular dystrophy with cataracts and intellectual disability  (DOID:0080197)
  • 3 papers in RGD have been used to annotate INPP5K
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability
  • Original References(s): PMID:33792664


    • An association has been curated linking INPP5K and congenital muscular dystrophy with cataracts and intellectual disability 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:155643121|RGD:155643123|RGD:155671155|RGD:155671156 (Homo sapiens) & RGD:155643121|RGD:155643123|RGD:155671155|RGD:155671156 (Homo sapiens) & RGD:155643121|RGD:155643123|RGD:155671155|RGD:155671156 (Homo sapiens) & RGD:155643121|RGD:155643123|RGD:155671155|RGD:155671156 (Homo sapiens)
  • 1 RGD objects have been annotated to congenital muscular dystrophy with cataracts and intellectual disability  (DOID:0080197)
  • 3 papers in RGD have been used to annotate INPP5K
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability


    • An association has been curated linking INPP5K and congenital muscular dystrophy with cataracts and intellectual disability 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:126746691|RGD:150409685|RGD:150409689|RGD:151348982|RGD:151349753|RGD:155645048|RGD:404998378 (Homo sapiens) & RGD:126746691|RGD:150409685|RGD:150409689|RGD:151348982|RGD:151349753|RGD:155645048|RGD:404998378 (Homo sapiens) & RGD:126746691|RGD:150409685|RGD:150409689|RGD:151348982|RGD:151349753|RGD:155645048|RGD:404998378 (Homo sapiens) & RGD:126746691|RGD:150409685|RGD:150409689|RGD:151348982|RGD:151349753|RGD:155645048|RGD:404998378 (Homo sapiens) & RGD:126746691|RGD:150409685|RGD:150409689|RGD:151348982|RGD:151349753|RGD:155645048|RGD:404998378 (Homo sapiens) & RGD:126746691|RGD:150409685|RGD:150409689|RGD:151348982|RGD:151349753|RGD:155645048|RGD:404998378 (Homo sapiens) & RGD:126746691|RGD:150409685|RGD:150409689|RGD:151348982|RGD:151349753|RGD:155645048|RGD:404998378 (Homo sapiens)
  • 1 RGD objects have been annotated to congenital muscular dystrophy with cataracts and intellectual disability  (DOID:0080197)
  • 3 papers in RGD have been used to annotate INPP5K
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability
  • Original References(s): PMID:25741868


    • An association has been curated linking INPP5K and congenital muscular dystrophy with cataracts and intellectual disability 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:12892626|RGD:12892673|RGD:12892681|RGD:12892687 (Homo sapiens) & RGD:12892626|RGD:12892673|RGD:12892681|RGD:12892687 (Homo sapiens) & RGD:12892626|RGD:12892673|RGD:12892681|RGD:12892687 (Homo sapiens) & RGD:12892626|RGD:12892673|RGD:12892681|RGD:12892687 (Homo sapiens)
  • 1 RGD objects have been annotated to congenital muscular dystrophy with cataracts and intellectual disability  (DOID:0080197)
  • 3 papers in RGD have been used to annotate INPP5K
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability
  • Original References(s): PMID:28190459


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