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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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 Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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:9687510 (Homo sapiens)
  • 1 RGD objects have been annotated to Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Macular dystrophy with central cone involvement
  • Original References(s): PMID:19177532 PMID:25227500 PMID:25741868 PMID:28492532 PMID:28586915


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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:405718053 (Homo sapiens)
  • 1 RGD objects have been annotated to Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Macular dystrophy with central cone involvement


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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:28893902 (Homo sapiens)
  • 1 RGD objects have been annotated to Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Macular dystrophy with central cone involvement
  • Original References(s): PMID:16199547 PMID:17564970 PMID:19177532 PMID:19201763 PMID:21990111 PMID:25227500 PMID:25741868 PMID:28492532 PMID:28586915


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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:12893744 (Homo sapiens)
  • 1 RGD objects have been annotated to Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Macular dystrophy with central cone involvement
  • Original References(s): PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 PMID:31006324 PMID:32037395 PMID:32581362


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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:9686586 (Homo sapiens)
  • 1 RGD objects have been annotated to Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Macular dystrophy with central cone involvement
  • Original References(s): PMID:25227500 PMID:25741868 PMID:26681805 PMID:28224992 PMID:28492532 PMID:28586915 PMID:33546218


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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:126753484 (Homo sapiens)
  • 1 RGD objects have been annotated to Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Macular dystrophy with central cone involvement
  • Original References(s): PMID:25741868 PMID:33546218


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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:9691268 (Homo sapiens)
  • 1 RGD objects have been annotated to Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Macular dystrophy with central cone involvement
  • Original References(s): PMID:17564970 PMID:17576681 PMID:25227500 PMID:25741868 PMID:28492532 PMID:31597037 PMID:9536098


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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:8573442 (Homo sapiens)
  • 1 RGD objects have been annotated to Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Macular dystrophy with central cone involvement
  • Original References(s): PMID:16199547 PMID:17564970 PMID:19177532 PMID:19201763 PMID:21990111 PMID:25227500 PMID:25439737 PMID:25741868 PMID:28492532 PMID:28586915 PMID:33546218


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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:156114751 (Homo sapiens)
  • 1 RGD objects have been annotated to Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Macular dystrophy with central cone involvement
  • Original References(s): PMID:25741868 PMID:35457110


    • An association has been curated linking MFSD8 and Macular Dystrophy with Central Cone Involvement 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 Macular Dystrophy with Central Cone Involvement  (DOID:9004170)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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