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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Hepacam and megalencephalic leukoencephalopathy with subcortical cysts 2B in Mus musculus.        

  • 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 HEPACAM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to megalencephalic leukoencephalopathy with subcortical cysts 2B  (DOID:0080317)
  • 5 papers in RGD have been used to annotate Hepacam


  • An association has been curated linking Hepacam and megalencephalic leukoencephalopathy with subcortical cysts 2B in Mus musculus.        

  • 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 HEPACAM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to megalencephalic leukoencephalopathy with subcortical cysts 2B  (DOID:0080317)
  • 5 papers in RGD have been used to annotate Hepacam
  • Curation Notes: ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
  • Original References(s): PMID:20517947 PMID:21419380 PMID:24202401 PMID:25044933 PMID:25741868 PMID:28492532 PMID:30763456


  • An association has been curated linking Hepacam and megalencephalic leukoencephalopathy with subcortical cysts 2B in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with HEPACAM (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to megalencephalic leukoencephalopathy with subcortical cysts 2B  (DOID:0080317)
  • 5 papers in RGD have been used to annotate Hepacam
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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