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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Mfsd8 and neuronal ceroid lipofuscinosis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MFSD8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to neuronal ceroid lipofuscinosis 2  (DOID:0110726)
  • 5 papers in RGD have been used to annotate Mfsd8
  • Curation Notes: ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
  • Original References(s): PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25439737 PMID:25741868 PMID:26467025 PMID:26681805 PMID:27884173 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:33546218


  • An association has been curated linking Mfsd8 and neuronal ceroid lipofuscinosis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MFSD8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to neuronal ceroid lipofuscinosis 2  (DOID:0110726)
  • 5 papers in RGD have been used to annotate Mfsd8
  • Curation Notes: ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
  • Original References(s): PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25439737 PMID:25741868 PMID:26467025 PMID:26681805 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:33546218


  • An association has been curated linking Mfsd8 and neuronal ceroid lipofuscinosis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MFSD8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to neuronal ceroid lipofuscinosis 2  (DOID:0110726)
  • 5 papers in RGD have been used to annotate Mfsd8
  • Curation Notes: ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2
  • Original References(s): PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25439737 PMID:25741868 PMID:26467025 PMID:26681805 PMID:27884173 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:30382371 PMID:31489614 PMID:32399599 PMID:33546218


  • An association has been curated linking Mfsd8 and neuronal ceroid lipofuscinosis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with MFSD8 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to neuronal ceroid lipofuscinosis 2  (DOID:0110726)
  • 5 papers in RGD have been used to annotate Mfsd8
  • Curation Notes: ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis
  • Original References(s): PMID:16199547 PMID:17564970 PMID:18414213 PMID:19177532 PMID:19201763 PMID:21990111 PMID:22668694 PMID:24033266 PMID:25227500 PMID:25439737 PMID:25741868 PMID:26467025 PMID:26681805 PMID:27884173 PMID:28224992 PMID:28492532 PMID:28586915 PMID:28600779 PMID:30382371 PMID:31489614 PMID:32399599 PMID:33546218 PMID:34828358


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