Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 2516
  • Symbol: NR5A1
  • Description: nuclear receptor subfamily 5 group A member 1

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Disease_Term Source Rank Other Values
46XY sex reversal 3, 612965 (3) OMIM high
  • Genome region : 9q33.3
  • OMIM_ID : 184757 OMIM gene ID
  • OMIM_ID : 612965 OMIM phenotype ID
Adrenocortical insufficiency (3) OMIM high
  • Genome region : 9q33.3
  • OMIM_ID : 184757 OMIM gene ID
Premature ovarian failure 7, 612964 (3) OMIM high
  • Genome region : 9q33.3
  • OMIM_ID : 184757 OMIM gene ID
  • OMIM_ID : 612964 OMIM phenotype ID
Spermatogenic failure 8, 613957 (3) OMIM high
  • Genome region : 9q33.3
  • OMIM_ID : 184757 OMIM gene ID
  • OMIM_ID : 613957 OMIM phenotype ID