Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 1080
  • Symbol: CFTR
  • Description: CF transmembrane conductance regulator

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Disease_Term Source Rank Other Values
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3) OMIM high
  • Genome region : 7q31.2
  • OMIM_ID : 211400 OMIM phenotype ID
  • OMIM_ID : 602421 OMIM gene ID
{Pancreatitis, idiopathic}, 167800 (3) OMIM high
  • Genome region : 7q31.2
  • OMIM_ID : 167800 OMIM phenotype ID
  • OMIM_ID : 602421 OMIM gene ID
Congenital bilateral absence of vas deferens, 277180 (3) OMIM high
  • Genome region : 7q31.2
  • OMIM_ID : 277180 OMIM phenotype ID
  • OMIM_ID : 602421 OMIM gene ID
Cystic fibrosis, 219700 (3) OMIM high
  • Genome region : 7q31.2
  • OMIM_ID : 219700 OMIM phenotype ID
  • OMIM_ID : 602421 OMIM gene ID
Sweat chloride elevation without CF (3) OMIM high
  • Genome region : 7q31.2
  • OMIM_ID : 602421 OMIM gene ID
{Hypertrypsinemia, neonatal} (3) OMIM high
  • Genome region : 7q31.2
  • OMIM_ID : 602421 OMIM gene ID
Response to methotrexate in juvenile idiopathic arthritis GWAS high
Response to platinum-based chemotherapy in non-small-cell lung cancer GWAS high
Gout GWAS high