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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking LOC487375 and developmental and epileptic encephalopathy 33 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 EEF1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 47 RGD objects have been annotated to developmental and epileptic encephalopathy 33  (DOID:0080463)
  • 0 papers in RGD have been used to annotate LOC487375


    • An association has been curated linking LOC487375 and developmental and epileptic encephalopathy 33 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 EEF1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 47 RGD objects have been annotated to developmental and epileptic encephalopathy 33  (DOID:0080463)
  • 0 papers in RGD have been used to annotate LOC487375
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
  • Original References(s): PMID:14534157 PMID:16199547 PMID:17290276 PMID:17576681 PMID:18414213 PMID:19822871 PMID:20805988 PMID:23033978 PMID:23166088 PMID:23360469 PMID:23647072 PMID:23692823 PMID:24697219 PMID:24811917 PMID:25326326 PMID:25326635 PMID:25741868 PMID:25921748 PMID:25951140 PMID:25959266 PMID:26030193 PMID:26467025 PMID:26633542 PMID:26682508 PMID:26740508 PMID:26758118 PMID:26795593 PMID:27441201 PMID:27652284 PMID:27779742 PMID:28135719 PMID:28378778 PMID:28492532 PMID:28628100 PMID:28911200 PMID:30109124 PMID:30377530 PMID:3066688 PMID:30866059 PMID:32160274 PMID:32196822 PMID:32429945 PMID:32725632 PMID:33004838 PMID:9536098


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