Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 138050
  • Symbol: HGSNAT
  • Description: heparan-alpha-glucosaminide N-acetyltransferase

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Disease_Term Source Rank Other Values
Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) OMIM high
  • Genome region : 8p11.2-p11.1
  • OMIM_ID : 252930 OMIM phenotype ID
  • OMIM_ID : 610453 OMIM gene ID
Retinitis pigmentosa 73, 616544 (3) OMIM high
  • Genome region : 8p11.2-p11.1
  • OMIM_ID : 610453 OMIM gene ID
  • OMIM_ID : 616544 OMIM phenotype ID