Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 54840
  • Symbol: APTX
  • Description: aprataxin

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Disease_Term Source Rank Other Values
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) OMIM high
  • Genome region : 9p21.1
  • OMIM_ID : 208920 OMIM phenotype ID
  • OMIM_ID : 606350 OMIM gene ID