Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 8546
  • Symbol: AP3B1
  • Description: adaptor related protein complex 3 subunit beta 1

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Disease_Term Source Rank Other Values
Hermansky-Pudlak syndrome 2, 608233 (3) OMIM high
  • Genome region : 5q14.1
  • OMIM_ID : 603401 OMIM gene ID
  • OMIM_ID : 608233 OMIM phenotype ID
Triglycerides GWAS high
Insulin resistance/response GWAS high