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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

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

  • 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 RGD objects have been annotated to Seizures, Cortical Blindness, and Microcephaly Syndrome  (DOID:9005489)
  • 0 papers in RGD have been used to annotate Diaph1
  • Curation Notes: ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25342930 PMID:25558065 PMID:25741868 PMID:26011067 PMID:26463574 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:28983057 PMID:29758562 PMID:30311386 PMID:30896630 PMID:32678080 PMID:33176815 PMID:33229591 PMID:33662367 PMID:34125151 PMID:34279089 PMID:35307828 PMID:36118902 PMID:9360932 PMID:9536098


    • An association has been curated linking Diaph1 and Seizures, Cortical Blindness, and Microcephaly Syndrome in Ictidomys tridecemlineatus.        

  • 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 RGD objects have been annotated to Seizures, Cortical Blindness, and Microcephaly Syndrome  (DOID:9005489)
  • 0 papers in RGD have been used to annotate Diaph1


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