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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking MFSD8 and neuronal ceroid lipofuscinosis 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:13210802 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:19201763 PMID:25741868 PMID:28492532 PMID:28708303 PMID:31741823


    • An association has been curated linking MFSD8 and neuronal ceroid lipofuscinosis 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:8595265 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:19277732 PMID:22668694 PMID:25741868 PMID:26075876 PMID:28492532 PMID:31006324


    • An association has been curated linking MFSD8 and neuronal ceroid lipofuscinosis 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)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Ceroid storage disease
  • 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 neuronal ceroid lipofuscinosis 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:26903643 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:19201763 PMID:21990111 PMID:22668694 PMID:28492532 PMID:34910516 PMID:35087090


    • An association has been curated linking MFSD8 and neuronal ceroid lipofuscinosis 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)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Jansky-Bielschowsky disease
  • 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 neuronal ceroid lipofuscinosis 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:10049117 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Jansky-Bielschowsky disease
  • Original References(s): PMID:25741868 PMID:28492532 PMID:34828358


    • An association has been curated linking MFSD8 and neuronal ceroid lipofuscinosis 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:156451350|RGD:243056591|RGD:401918734 (Homo sapiens) & RGD:156451350|RGD:243056591|RGD:401918734 (Homo sapiens) & RGD:156451350|RGD:243056591|RGD:401918734 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate MFSD8
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis


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