Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 285848
  • Symbol: PNPLA1
  • Description: patatin like domain 1, omega-hydroxyceramide transacylase

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Disease_Term Source Rank Other Values
Ichthyosis, congenital, autosomal recessive 10, 615024 (3) OMIM high
  • Genome region : 6p21.31
  • OMIM_ID : 612121 OMIM gene ID
  • OMIM_ID : 615024 OMIM phenotype ID