Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:4763
  • Symbol:NF1
  • Description:neurofibromin 1

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Disease_Term Source Rank Other Values
Neurofibromatosis, type 1, 162200 (3) OMIM high
  • Genome region :17q11.2
  • OMIM_ID :162200OMIM phenotype ID
  • OMIM_ID :613113OMIM gene ID
Leukemia, juvenile myelomonocytic, 607785 (3) OMIM high
  • Genome region :17q11.2
  • OMIM_ID :607785OMIM phenotype ID
  • OMIM_ID :613113OMIM gene ID
Neurofibromatosis-Noonan syndrome, 601321 (3) OMIM high
  • Genome region :17q11.2
  • OMIM_ID :601321OMIM phenotype ID
  • OMIM_ID :613113OMIM gene ID
Watson syndrome, 193520 (3) OMIM high
  • Genome region :17q11.2
  • OMIM_ID :193520OMIM phenotype ID
  • OMIM_ID :613113OMIM gene ID
Neurofibromatosis, familial spinal, 162210 (3) OMIM high
  • Genome region :17q11.2
  • OMIM_ID :162210OMIM phenotype ID
  • OMIM_ID :613113OMIM gene ID
Myopia (pathological) GWAS high