Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:80184
  • Symbol:CEP290
  • Description:centrosomal protein 290

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Disease_Term Source Rank Other Values
Leber congenital amaurosis 10, 611755 (3) OMIM high
  • Genome region :12q21.32
  • OMIM_ID :610142OMIM gene ID
  • OMIM_ID :611755OMIM phenotype ID
Meckel syndrome 4, 611134 (3) OMIM high
  • Genome region :12q21.32
  • OMIM_ID :610142OMIM gene ID
  • OMIM_ID :611134OMIM phenotype ID
?Bardet-Biedl syndrome 14, 615991 (3) OMIM high
  • Genome region :12q21.32
  • OMIM_ID :610142OMIM gene ID
  • OMIM_ID :615991OMIM phenotype ID
Joubert syndrome 5, 610188 (3) OMIM high
  • Genome region :12q21.32
  • OMIM_ID :610142OMIM gene ID
  • OMIM_ID :610188OMIM phenotype ID
Senior-Loken syndrome 6, 610189 (3) OMIM high
  • Genome region :12q21.32
  • OMIM_ID :610142OMIM gene ID
  • OMIM_ID :610189OMIM phenotype ID
Clozapine-induced agranulocytosis GWAS high
Mild influenza (H1N1) infection GWAS high