ONTOLOGY REPORT - ANNOTATIONS


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
 related_synonym: SWEAT CHLORIDE ELEVATION WITHOUT 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 adrenergic receptor, beta 1 JBrowse link 19 56,722,372 56,724,862 RGD:5129107
G Adrb2 adrenergic receptor, beta 2 JBrowse link 18 62,177,713 62,179,981 RGD:5129107
RGD:4145099
G Adrb3 adrenergic receptor, beta 3 JBrowse link 8 27,225,776 27,230,807 RGD:5129107
G Ager advanced glycosylation end product-specific receptor JBrowse link 17 34,597,410 34,600,937 RGD:6767553
RGD:8695959
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring JBrowse link 1 87,125,008 87,127,912 RGD:14349050
G Bglap bone gamma carboxyglutamate protein JBrowse link 3 88,383,495 88,384,466 RGD:6483578
G Ccl11 chemokine (C-C motif) ligand 11 JBrowse link 11 82,057,832 82,062,955 RGD:4145455
G Ccl17 chemokine (C-C motif) ligand 17 JBrowse link 8 94,805,250 94,812,038 RGD:4145491
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:4143275
G Ccl4 chemokine (C-C motif) ligand 4 JBrowse link 11 83,648,624 83,664,683 RGD:5130907
RGD:5130902
G Ccr3 chemokine (C-C motif) receptor 3 JBrowse link 9 124,017,825 124,031,689 RGD:4145632
G Cd14 CD14 antigen JBrowse link 18 36,725,064 36,726,815 RGD:4144794
RGD:4144796
G Cd40lg CD40 ligand JBrowse link X 57,212,143 57,224,042 RGD:7248443
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 6 18,170,262 18,322,774 RGD:4140481
RGD:8554872
RGD:13592920
RGD:11566051
RGD:11554173
RGD:734772
RGD:7240710
RGD:4139910
RGD:4140394
RGD:4140393
RGD:4140428
RGD:4140439
RGD:4140392
RGD:4140401
RGD:4140429
RGD:4140450
RGD:4140440
RGD:4140422
RGD:4140465
RGD:4140464
RGD:4140438
RGD:4140442
RGD:4140435
RGD:4140436
G Clca1 chloride channel accessory 1 JBrowse link 3 145,004,537 145,032,776 RGD:4145657
G Csf3r colony stimulating factor 3 receptor (granulocyte) JBrowse link 4 126,023,441 126,044,975 RGD:5133738
G Cxcl1 chemokine (C-X-C motif) ligand 1 JBrowse link 5 90,891,245 90,893,121 RGD:5135034
G Cxcl2 chemokine (C-X-C motif) ligand 2 JBrowse link 5 90,903,899 90,905,938 RGD:5135034
G Cxcl3 chemokine (C-X-C motif) ligand 3 JBrowse link 5 90,786,101 90,788,093 RGD:5135456
G Cxcl9 chemokine (C-X-C motif) ligand 9 JBrowse link 5 92,321,331 92,328,079 RGD:5135456
G Cxcr2 chemokine (C-X-C motif) receptor 2 JBrowse link 1 74,153,994 74,161,246 RGD:5135034
G Cxcr3 chemokine (C-X-C motif) receptor 3 JBrowse link X 101,731,535 101,734,147 RGD:4145632
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 9 57,687,928 57,703,824 RGD:4889126
G Dctn4 dynactin 4 JBrowse link 18 60,526,159 60,558,762 RGD:11554173
G Defb4 defensin beta 4 JBrowse link 8 19,198,704 19,201,547 RGD:4892267
G Edn1 endothelin 1 JBrowse link 13 42,301,476 42,307,990 RGD:4145062
G Fas Fas (TNF receptor superfamily member 6) JBrowse link 19 34,290,659 34,327,775 RGD:12903971
G Fasl Fas ligand (TNF superfamily, member 6) JBrowse link 1 161,780,691 161,788,495 RGD:12904024
G Fcgr3 Fc receptor, IgG, low affinity III JBrowse link 1 171,051,169 171,065,936 RGD:7240710
RGD:8554872
G Gclc glutamate-cysteine ligase, catalytic subunit JBrowse link 9 77,754,518 77,794,489 RGD:5134682
G Gstm1 glutathione S-transferase, mu 1 JBrowse link 3 108,012,250 108,017,973 RGD:10401929
RGD:12798506
RGD:12792246
RGD:12792207
G Gstm3 glutathione S-transferase, mu 3 JBrowse link 3 107,963,696 107,969,174 RGD:5135040
G Gstp1 glutathione S-transferase, pi 1 JBrowse link 19 4,035,411 4,037,912 RGD:1331525
G Gstt1 glutathione S-transferase, theta 1 JBrowse link 10 75,783,813 75,798,584 RGD:12792207
RGD:12792246
RGD:10401929
G H2-M3 histocompatibility 2, M region locus 3 JBrowse link 17 37,270,234 37,274,485 RGD:5144066
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link 11 46,454,931 46,481,255 RGD:5135530
G Hc hemolytic complement JBrowse link 2 34,983,329 35,067,034 RGD:5130162
G Hmox1 heme oxygenase 1 JBrowse link 8 75,093,618 75,100,593 RGD:4145410
G Hspa1a heat shock protein 1A JBrowse link 17 34,969,359 34,972,156 RGD:6767553
G Hspd1 heat shock protein 1 (chaperonin) JBrowse link 1 55,077,834 55,088,217 RGD:12910480
G Igf1 insulin-like growth factor 1 JBrowse link 10 87,858,265 87,937,047 RGD:12904899
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 11 7,206,086 7,214,081 RGD:12743589
G Il13 interleukin 13 JBrowse link 11 53,631,323 53,634,702 RGD:4312589
G Il17a interleukin 17A JBrowse link 1 20,730,905 20,734,496 RGD:4889105
RGD:4889130
G Il18 interleukin 18 JBrowse link 9 50,554,705 50,581,841 RGD:4889551
G Il18bp interleukin 18 binding protein JBrowse link 7 102,015,077 102,018,155 RGD:4889551
G Il1a interleukin 1 alpha JBrowse link 2 129,299,609 129,310,877 RGD:4142849
G Il1b interleukin 1 beta JBrowse link 2 129,363,842 129,371,170 RGD:4142844
RGD:4143181
G Il1rn interleukin 1 receptor antagonist JBrowse link 2 24,336,860 24,351,491 RGD:4143175
RGD:4143181
G Il6 interleukin 6 JBrowse link 5 30,013,114 30,019,975 RGD:5128672
RGD:4143275
G Il9 interleukin 9 JBrowse link 13 56,479,277 56,482,246 RGD:5128699
G Il9r interleukin 9 receptor JBrowse link 11 32,187,544 32,205,345 RGD:5128699
G Irf1 interferon regulatory factor 1 JBrowse link 11 53,770,014 53,778,374 RGD:5128720
G Lep leptin JBrowse link 6 29,060,195 29,073,877 RGD:5128819
G Lta lymphotoxin A JBrowse link 17 35,203,165 35,205,632 RGD:6767553
G Mbl2 mannose-binding lectin (protein C) 2 JBrowse link 19 30,232,906 30,239,686 RGD:4889443
RGD:4889447
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) JBrowse link 10 75,859,353 75,860,250 RGD:4891053
G Mmp9 matrix metallopeptidase 9 JBrowse link 2 164,940,744 164,955,850 RGD:5130723
RGD:13204794
G Mpo myeloperoxidase JBrowse link 11 87,793,784 87,804,412 RGD:5130986
RGD:5130968
G Muc1 mucin 1, transmembrane JBrowse link 3 89,229,056 89,233,381 RGD:5131272
G Muc2 mucin 2 JBrowse link 7 141,690,340 141,754,694 RGD:5131426
G Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric JBrowse link 7 141,788,958 141,819,217 RGD:5131191
G Muc5b mucin 5, subtype B, tracheobronchial JBrowse link 7 141,839,012 141,873,089 RGD:5131191
RGD:5131194
G Muc6 mucin 6, gastric JBrowse link 7 141,634,049 141,655,308 RGD:7364748
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 1 63,143,592 63,176,822 RGD:6484688
G Nos1 nitric oxide synthase 1, neuronal JBrowse link 5 117,780,987 117,958,840 RGD:5132868
RGD:5132627
RGD:5132865
G Nos2 nitric oxide synthase 2, inducible JBrowse link 11 78,920,787 78,960,232 RGD:4891958
G Nos3 nitric oxide synthase 3, endothelial cell JBrowse link 5 24,364,819 24,384,474 RGD:4892049
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 15 85,734,628 85,806,851 RGD:5683626
G Prss1 protease, serine 1 (trypsin 1) JBrowse link 6 41,458,930 41,463,786 RGD:1599967
G Ptgdr2 prostaglandin D2 receptor 2 JBrowse link 19 10,927,861 10,942,511 RGD:5135022
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 150,100,031 150,108,234 RGD:5135298
RGD:5135523
G Scnn1a sodium channel, nonvoltage-gated 1 alpha JBrowse link 6 125,321,052 125,344,943 RGD:11554173
G Scnn1b sodium channel, nonvoltage-gated 1 beta JBrowse link 7 121,865,038 121,918,728 RGD:11554173
RGD:13592920
G Scnn1g sodium channel, nonvoltage-gated 1 gamma JBrowse link 7 121,734,421 121,768,482 RGD:11554173
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N JBrowse link 12 104,406,698 104,414,334 RGD:5147439
G Sftpa1 surfactant associated protein A1 JBrowse link 14 41,131,788 41,136,373 RGD:4143403
G Sftpb surfactant associated protein B JBrowse link 6 72,304,610 72,314,373 RGD:4143381
G Sftpc surfactant associated protein C JBrowse link 14 70,520,941 70,524,081 RGD:4143403
G Sftpd surfactant associated protein D JBrowse link 14 41,172,212 41,185,198 RGD:4143502
G Tgfb1 transforming growth factor, beta 1 JBrowse link 7 25,687,002 25,705,077 RGD:4145125
RGD:8554872
RGD:7240710
G Timp1 tissue inhibitor of metalloproteinase 1 JBrowse link X 20,870,166 20,874,737 RGD:13204794
G Tlr4 toll-like receptor 4 JBrowse link 4 66,827,551 66,846,581 RGD:4144105
RGD:4144179
G Tlr5 toll-like receptor 5 JBrowse link 1 182,954,752 182,976,044 RGD:5129506
RGD:5129499
G Tlr9 toll-like receptor 9 JBrowse link 9 106,222,598 106,226,876 RGD:5130208
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:4142846
RGD:6767553
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a JBrowse link 6 125,349,723 125,362,483 RGD:11554173
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 1 131,744,022 131,771,504 RGD:11554173
G Slc6a14 solute carrier family 6 (neurotransmitter transporter), member 14 JBrowse link X 21,714,900 21,742,358 RGD:11554173
G Slc9a3 solute carrier family 9 (sodium/hydrogen exchanger), member 3 JBrowse link 13 74,086,253 74,169,442 RGD:11554173

Term paths to the root
Path 1
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  disease 11780
    disease of anatomical entity 11243
      gastrointestinal system disease 3901
        pancreas disease 821
          cystic fibrosis 90
            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 11780
    Developmental Diseases 7462
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6490
        genetic disease 5764
          monogenic disease 2750
            autosomal genetic disease 2071
              autosomal recessive disease 1236
                cystic fibrosis 90
                  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.