Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 5745
  • Symbol: PTH1R
  • Description: parathyroid hormone 1 receptor

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Disease_Term Source Rank Other Values
Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3) OMIM high
  • Genome region : 3p21.31
  • OMIM_ID : 156400 OMIM phenotype ID
  • OMIM_ID : 168468 OMIM gene ID
Chondrodysplasia, Blomstrand type, 215045 (3) OMIM high
  • Genome region : 3p21.31
  • OMIM_ID : 168468 OMIM gene ID
  • OMIM_ID : 215045 OMIM phenotype ID
Eiken syndrome, 600002 (3) OMIM high
  • Genome region : 3p21.31
  • OMIM_ID : 168468 OMIM gene ID
  • OMIM_ID : 600002 OMIM phenotype ID
Failure of tooth eruption, primary, 125350 (3) OMIM high
  • Genome region : 3p21.31
  • OMIM_ID : 125350 OMIM phenotype ID
  • OMIM_ID : 168468 OMIM gene ID
Microalbuminuria GWAS high