Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:378884
  • Symbol:NHLRC1
  • Description:NHL repeat containing E3 ubiquitin protein ligase 1

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Disease_Term Source Rank Other Values
Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) OMIM high
  • Genome region :6p22.3
  • OMIM_ID :254780OMIM phenotype ID
  • OMIM_ID :608072OMIM gene ID