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