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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Diaph1 and Seizures, Cortical Blindness, and Microcephaly Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with DIAPH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Seizures, Cortical Blindness, and Microcephaly Syndrome  (DOID:9005489)
  • 10 papers in CRRD have been used to annotate Diaph1


  • An association has been curated linking Diaph1 and Seizures, Cortical Blindness, and Microcephaly Syndrome 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 DIAPH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Seizures, Cortical Blindness, and Microcephaly Syndrome  (DOID:9005489)
  • 10 papers in CRRD have been used to annotate Diaph1
  • Curation Notes: ClinVar Annotator: match by term: SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME
  • Original References(s): PMID:24781755, PMID:25558065


  • An association has been curated linking Diaph1 and Seizures, Cortical Blindness, and Microcephaly Syndrome 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 DIAPH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Seizures, Cortical Blindness, and Microcephaly Syndrome  (DOID:9005489)
  • 10 papers in CRRD have been used to annotate Diaph1
  • Curation Notes: ClinVar Annotator: match by term: SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME
  • Original References(s): PMID:26463574


  • An association has been curated linking Diaph1 and Seizures, Cortical Blindness, and Microcephaly Syndrome 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 DIAPH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Seizures, Cortical Blindness, and Microcephaly Syndrome  (DOID:9005489)
  • 10 papers in CRRD have been used to annotate Diaph1
  • Curation Notes: ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
  • Original References(s): PMID:25741868


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.