Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 4983
  • Symbol: OPHN1
  • Description: oligophrenin 1

Export (tab separated) Export to Excel

Disease_Term Source Rank Other Values
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) OMIM high
  • Genome region : Xq12
  • OMIM_ID : 300127 OMIM gene ID
  • OMIM_ID : 300486 OMIM phenotype ID