Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5205
  • Symbol: ATP8B1
  • Description: ATPase phospholipid transporting 8B1

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Disease_Term Source Rank Other Values
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) OMIM high
  • Genome region : 18q21.31
  • OMIM_ID : 147480 OMIM phenotype ID
  • OMIM_ID : 602397 OMIM gene ID
Cholestasis, progressive familial intrahepatic 1, 211600 (3) OMIM high
  • Genome region : 18q21.31
  • OMIM_ID : 211600 OMIM phenotype ID
  • OMIM_ID : 602397 OMIM gene ID
Cholestasis, benign recurrent intrahepatic, 243300 (3) OMIM high
  • Genome region : 18q21.31
  • OMIM_ID : 243300 OMIM phenotype ID
  • OMIM_ID : 602397 OMIM gene ID
Very long-chain saturated fatty acid levels (fatty acid 20:0) GWAS high
Vitiligo GWAS high
Attention deficit hyperactivity disorder and conduct disorder GWAS high
Liver enzyme levels (gamma-glutamyl transferase) GWAS high
Manganese levels GWAS high