Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 182
  • Symbol: JAG1
  • Description: jagged canonical Notch ligand 1

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Disease_Term Source Rank Other Values
Alagille syndrome 1, 118450 (3) OMIM high
  • Genome region : 20p12.2
  • OMIM_ID : 118450 OMIM phenotype ID
  • OMIM_ID : 601920 OMIM gene ID
Tetralogy of Fallot, 187500 (3) OMIM high
  • Genome region : 18q11.2
  • Genome region : 19p13.11
  • Genome region : 20p12.2
  • Genome region : 22q11.21
  • Genome region : 5q35.1
  • Genome region : 8p23.1
  • Genome region : 8q23.1
  • OMIM_ID : 187500 OMIM phenotype ID
  • OMIM_ID : 600576 OMIM gene ID
  • OMIM_ID : 600584 OMIM gene ID
  • OMIM_ID : 601656 OMIM gene ID
  • OMIM_ID : 601920 OMIM gene ID
  • OMIM_ID : 602054 OMIM gene ID
  • OMIM_ID : 602880 OMIM gene ID
  • OMIM_ID : 603693 OMIM gene ID
?Deafness, congenital heart defects, and posterior embryotoxon (3) OMIM high
  • Genome region : 20p12.2
  • OMIM_ID : 601920 OMIM gene ID
Cardiac hypertrophy GWAS high
Urinary bladder cancer GWAS high
Diastolic blood pressure GWAS high
Blood pressure GWAS high
Systolic blood pressure GWAS high
Bone mineral density GWAS high