Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 26580
  • Symbol: BSCL2
  • Description: BSCL2 lipid droplet biogenesis associated, seipin

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Disease_Term Source Rank Other Values
Neuropathy, distal hereditary motor, type VA, 600794 (3) OMIM high
  • Genome region : 11q12.3
  • Genome region : 7p14.3
  • OMIM_ID : 600287 OMIM gene ID
  • OMIM_ID : 600794 OMIM phenotype ID
  • OMIM_ID : 606158 OMIM gene ID
Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) OMIM high
  • Genome region : 11q12.3
  • OMIM_ID : 606158 OMIM gene ID
  • OMIM_ID : 615924 OMIM phenotype ID
Silver spastic paraplegia syndrome, 270685 (3) OMIM high
  • Genome region : 11q12.3
  • OMIM_ID : 270685 OMIM phenotype ID
  • OMIM_ID : 606158 OMIM gene ID
Lipodystrophy, congenital generalized, type 2, 269700 (3) OMIM high
  • Genome region : 11q12.3
  • OMIM_ID : 269700 OMIM phenotype ID
  • OMIM_ID : 606158 OMIM gene ID
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) GWAS high