Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:538
  • Symbol:ATP7A
  • Description:ATPase copper transporting alpha

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Disease_Term Source Rank Other Values
Menkes disease, 309400 (3) OMIM high
  • Genome region :Xq21.1
  • OMIM_ID :300011OMIM gene ID
  • OMIM_ID :309400OMIM phenotype ID
Occipital horn syndrome, 304150 (3) OMIM high
  • Genome region :Xq21.1
  • OMIM_ID :300011OMIM gene ID
  • OMIM_ID :304150OMIM phenotype ID
Spinal muscular atrophy, distal, X-linked 3, 300489 (3) OMIM high
  • Genome region :Xq21.1
  • OMIM_ID :300011OMIM gene ID
  • OMIM_ID :300489OMIM phenotype ID