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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking HNRNPU and developmental and epileptic encephalopathy 54 in Canis lupus familiaris.        

  • 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 HNRNPU (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 57 RGD objects have been annotated to developmental and epileptic encephalopathy 54  (DOID:0080418)
  • 0 papers in RGD have been used to annotate HNRNPU


    • An association has been curated linking HNRNPU and developmental and epileptic encephalopathy 54 in Canis lupus familiaris.        

  • 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 HNRNPU (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 57 RGD objects have been annotated to developmental and epileptic encephalopathy 54  (DOID:0080418)
  • 0 papers in RGD have been used to annotate HNRNPU
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54
  • Original References(s): PMID:16199547 PMID:17576681 PMID:22678713 PMID:23708187 PMID:23934111 PMID:25356899 PMID:25356970 PMID:25741868 PMID:26467025 PMID:27652284 PMID:28283832 PMID:28492532 PMID:28815871 PMID:28944577 PMID:29170628 PMID:29758562 PMID:30866059 PMID:32319732 PMID:32488064 PMID:33874999 PMID:35138025 PMID:35571021 PMID:9536098


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