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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Rab33a and X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 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 RAB33A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   (DOID:9000068)
  • 2 papers in RGD have been used to annotate Rab33a
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration
  • Original References(s): PMID:10486082 PMID:23239615 PMID:27102849 PMID:28842795


  • An association has been curated linking Rab33a and X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 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 RAB33A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   (DOID:9000068)
  • 2 papers in RGD have been used to annotate Rab33a
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration
  • Original References(s): PMID:16924009 PMID:28842795


  • An association has been curated linking Rab33a and X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 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 RAB33A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   (DOID:9000068)
  • 2 papers in RGD have been used to annotate Rab33a
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration
  • Original References(s): PMID:25741868 PMID:28842795


  • An association has been curated linking Rab33a and X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 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 RAB33A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   (DOID:9000068)
  • 2 papers in RGD have been used to annotate Rab33a
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration
  • Original References(s): PMID:28842795


  • An association has been curated linking Rab33a and X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 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 RAB33A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   (DOID:9000068)
  • 2 papers in RGD have been used to annotate Rab33a
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy
  • Original References(s): PMID:25741868


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