Term:cystic fibrosis
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Accession:DOID:1485 term browser browse the term
Definition:An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Synonyms:exact_synonym: CF;   Cystic Fibrosis of Pancreas;   Fibrocystic Disease of Pancreas;   Mucoviscidosis;   Pancreas Fibrocystic Disease;   Pancreas Fibrocystic Diseases;   Pancreatic Cystic Fibrosis;   Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis;   Pulmonary Cystic Fibrosis
 narrow_synonym: Nonclassic cystic fibrosis
 primary_id: MESH:D003550;   RDO:0002797
 alt_id: OMIM:219700
 xref: GARD:6233
For additional species annotation, visit the Alliance of Genome Resources.

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cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenoceptor beta 1 JBrowse link NW_004955431 19,025,663 19,027,026 RGD:9068941
G Adrb2 adrenoceptor beta 2 JBrowse link NW_004955415 5,515,157 5,517,198 RGD:9068941
G Adrb3 adrenoceptor beta 3 JBrowse link NW_004955463 13,663,064 13,665,553 RGD:9068941
G Ager advanced glycosylation end-product specific receptor JBrowse link NW_004955437 645,482 648,607 RGD:9068941
G Bglap bone gamma-carboxyglutamate protein JBrowse link NW_004955545 2,381,091 2,382,114 RGD:9068941
G Ccl17 C-C motif chemokine ligand 17 JBrowse link NW_004955433 15,052,616 15,054,732 RGD:9068941
G Ccr3 C-C motif chemokine receptor 3 JBrowse link NW_004955420 25,702,917 25,723,269 RGD:9068941
G Cd14 CD14 molecule JBrowse link NW_004955418 73,736 75,345 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004955489 8,465,571 8,477,714 RGD:9068941
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link NW_004955432 23,179,645 23,328,347 RGD:9068941
G Clca1 chloride channel accessory 1 JBrowse link NW_004955423 7,684,741 7,714,438 RGD:9068941
G Csf3r colony stimulating factor 3 receptor JBrowse link NW_004955452 14,409,484 14,425,818 RGD:9068941
G Cxcl8 C-X-C motif chemokine ligand 8 JBrowse link NW_004955474 247,326 250,355 RGD:9068941
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link NW_004955433 724,566 731,945 RGD:9068941
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link NW_004955475 11,148,928 11,152,313 RGD:9068941
G Dctn4 dynactin subunit 4 JBrowse link NW_004955415 3,850,475 3,886,953 RGD:9068941
G Edn1 endothelin 1 JBrowse link NW_004955465 2,287,906 2,314,945 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004955425 3,961,671 3,987,513 RGD:9068941
G Faslg Fas ligand JBrowse link NW_004955406 13,098,479 13,107,045 RGD:9068941
G Gclc glutamate-cysteine ligase catalytic subunit JBrowse link NW_004955411 2,593,523 2,617,553 RGD:9068941
G Gstm3 glutathione S-transferase mu 3 JBrowse link NW_004955435 13,253,947 13,256,965 RGD:9068941
G Gstp1 glutathione S-transferase pi 1 JBrowse link NW_004955422 17,914,228 17,916,918 RGD:9068941
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link NW_004955408 11,289,920 11,311,216 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004955405 43,124,447 43,128,873 RGD:9068941
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link NW_004955403 3,062,724 3,073,419 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004955405 37,505,830 37,582,152 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004955456 6,795,560 6,802,147 RGD:9068941
G Il13 interleukin 13 JBrowse link NW_004955408 4,046,406 4,049,795 RGD:9068941
G Il17a interleukin 17A JBrowse link NW_004955411 5,896,435 5,899,911 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004955412 13,807,361 13,826,007 RGD:9068941
G Il18bp interleukin 18 binding protein JBrowse link NW_004955414 19,327,828 19,332,577 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004955470 1,527,710 1,538,418 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Il9 interleukin 9 JBrowse link NW_004955408 30,950,816 30,953,571 RGD:9068941
G Il9r interleukin 9 receptor JBrowse link NW_004955442 17,115,207 17,128,899 RGD:9068941
G Irf1 interferon regulatory factor 1 JBrowse link NW_004955408 3,882,282 3,887,965 RGD:9068941
G Lep leptin JBrowse link NW_004955479 9,266,604 9,276,568 RGD:9068941
G LOC102010850 cytochrome P450 1A1 JBrowse link NW_004955450 3,183,958 3,189,488 RGD:9068941
G Lta lymphotoxin alpha JBrowse link NW_004955437 114,216 116,003 RGD:9068941
G Mbl2 mannose binding lectin 2 JBrowse link NW_004955425 7,704,371 7,708,951 RGD:9068941
G Mif macrophage migration inhibitory factor JBrowse link NW_004955455 8,367,566 8,368,460 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004955445 11,295,500 11,303,322 RGD:9068941
G Mpo myeloperoxidase JBrowse link NW_004955451 4,743,744 4,753,358 RGD:9068941
G Muc1 mucin 1, cell surface associated JBrowse link NW_004955545 1,657,728 1,662,112 RGD:9068941
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link NW_004955476 11,108,826 11,135,697 RGD:9068941
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming JBrowse link NW_004955476 11,061,405 11,084,294 RGD:9068941
G Muc5b mucin 5B, oligomeric mucus/gel-forming JBrowse link NW_004955476 11,021,665 11,049,239 RGD:9068941
G Muc6 mucin 6, oligomeric mucus/gel-forming JBrowse link NW_004955476 11,165,423 11,184,674 RGD:9068941
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link NW_004955457 8,838,216 8,879,059 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004955455 13,797,557 13,978,402 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004955481 5,197,957 5,232,406 RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004955491 5,438,228 5,457,308 RGD:9068941
G Ppara peroxisome proliferator activated receptor alpha JBrowse link NW_004955413 30,306,563 30,366,245 RGD:9068941
G Ptgdr2 prostaglandin D2 receptor 2 JBrowse link NW_004955511 5,536,602 5,539,944 RGD:9068941
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link NW_004955406 25,077,988 25,086,259 RGD:9068941
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link NW_004955413 4,000,083 4,023,596 RGD:9068941
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link NW_004955493 1,937,507 1,956,248 RGD:9068941
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link NW_004955493 1,787,693 1,813,085 RGD:9068941
G Serpina3 serpin family A member 3 JBrowse link NW_004955438 17,758,763 17,766,113 RGD:9068941
G Sftpb surfactant protein B JBrowse link NW_004955424 1,849,313 1,858,087 RGD:9068941
G Sftpc surfactant protein C JBrowse link NW_004955403 45,649,149 45,651,421 RGD:9068941
G Sftpd surfactant protein D JBrowse link NW_004955510 213,468 226,096 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link NW_004955516 507,113 511,360 RGD:9068941
G Tlr4 toll like receptor 4 JBrowse link NW_004955419 10,190,937 10,201,896 RGD:9068941
G Tlr5 toll like receptor 5 JBrowse link NW_004955520 1,544,840 1,562,081 RGD:9068941
G Tlr9 toll like receptor 9 JBrowse link NW_004955532 3,828,645 3,832,699 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link NW_004955413 3,982,670 3,996,320 RGD:9068941
Cystic Fibrosis, Modifier of, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a9 solute carrier family 26 member 9 JBrowse link NW_004955406 41,559,424 41,587,748 RGD:9068941
G Slc6a14 solute carrier family 6 member 14 JBrowse link NW_004955534 3,463,057 3,488,577 RGD:9068941
G Slc9a3 solute carrier family 9 member A3 JBrowse link NW_004955504 226,192 260,632 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10540
    disease of anatomical entity 10091
      gastrointestinal system disease 3421
        pancreas disease 712
          cystic fibrosis 74
            Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
            Cystic Fibrosis, Modifier of, 1 3
            Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
            Lubani Al Saleh Teebi Syndrome 0
Path 2
Term Annotations click to browse term
  disease 10540
    Developmental Diseases 6834
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6011
        genetic disease 5331
          monogenic disease 2572
            autosomal genetic disease 1958
              autosomal recessive disease 1158
                cystic fibrosis 74
                  Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
                  Cystic Fibrosis, Modifier of, 1 3
                  Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
                  Lubani Al Saleh Teebi Syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.