Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 4864
  • Symbol: NPC1
  • Description: NPC intracellular cholesterol transporter 1

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Disease_Term Source Rank Other Values
Niemann-Pick disease, type D, 257220 (3) OMIM high
  • Genome region : 18q11.2
  • OMIM_ID : 257220 OMIM phenotype ID
  • OMIM_ID : 607623 OMIM gene ID
Niemann-Pick disease, type C1, 257220 (3) OMIM high
  • Genome region : 18q11.2
  • OMIM_ID : 257220 OMIM phenotype ID
  • OMIM_ID : 607623 OMIM gene ID
Obesity GWAS high