Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 8878
  • Symbol: SQSTM1
  • Description: sequestosome 1

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Disease_Term Source Rank Other Values
Paget disease of bone 3, 167250 (3) OMIM high
  • Genome region : 5q35.3
  • OMIM_ID : 167250 OMIM phenotype ID
  • OMIM_ID : 601530 OMIM gene ID
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3) OMIM high
  • Genome region : 5q35.3
  • OMIM_ID : 601530 OMIM gene ID
  • OMIM_ID : 616437 OMIM phenotype ID
Myopathy, distal, with rimmed vacuoles, 617158 (3) OMIM high
  • Genome region : 5q35.3
  • OMIM_ID : 601530 OMIM gene ID
  • OMIM_ID : 617158 OMIM phenotype ID
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3) OMIM high
  • Genome region : 5q35.3
  • OMIM_ID : 601530 OMIM gene ID
  • OMIM_ID : 617145 OMIM phenotype ID
Alzheimer's disease (late onset) GWAS high