Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:57520
  • Symbol:HECW2
  • Description:HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

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Disease_Term Source Rank Other Values
Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3) OMIM high
  • Genome region :2q32.3
  • OMIM_ID :617245OMIM gene ID
  • OMIM_ID :617268OMIM phenotype ID
Response to fenofibrate (LDL cholesterol levels) GWAS high