ONTOLOGY REPORT - ANNOTATIONS

Term:Cystic Fibrosis
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Accession:RDO:0002797 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;   Fibrocystic Disease of Pancreas;   Mucoviscidosis;   Pancreas Fibrocystic Disease;   Pancreas Fibrocystic Diseases;   Pancreatic Cystic Fibrosis;   Pulmonary Cystic Fibrosis
 primary_id: MESH:D003550
 alt_id: OMIM:219700

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Cystic Fibrosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adrb1 adrenoceptor beta 1 GBrowse link ISS 1 263,025,655 263,027,055 RGD:5129107 RGD
G Adrb2 adrenoceptor beta 2, surface GBrowse link ISS 18 58,174,958 58,177,000 RGD:5129107 RGD
G Adrb2 adrenoceptor beta 2, surface GBrowse link ISS 18 58,174,958 58,177,000 RGD:4145099 RGD
G Adrb3 adrenoceptor beta 3 GBrowse link ISS 16 69,163,620 69,166,384 RGD:5129107 RGD
G Ager advanced glycosylation end product-specific receptor GBrowse link Severity ISS 20 4,250,613 4,253,540 RGD:6767553 RGD
G C5 complement component 5 GBrowse link Severity ISS 3 14,011,115 14,102,744 RGD:5130162 RGD
G Ccl11 chemokine (C-C motif) ligand 11 GBrowse link ISS 10 70,279,161 70,283,762 RGD:4145455 RGD
G Ccl17 chemokine (C-C motif) ligand 17 GBrowse link ISS 19 10,641,376 10,642,827 RGD:4145491 RGD
G Ccl2 chemokine (C-C motif) ligand 2 GBrowse link ISS 10 70,256,263 70,258,061 RGD:4143275 RGD
G Ccl4 chemokine (C-C motif) ligand 4 GBrowse link ISS 10 71,759,643 71,761,115 RGD:5130907 RGD
G Ccl4 chemokine (C-C motif) ligand 4 GBrowse link ISS 10 71,759,643 71,761,115 RGD:5130902 RGD
G Ccr3 chemokine (C-C motif) receptor 3 GBrowse link ISS 8 128,759,943 128,769,341 RGD:4145632 RGD
G Cd14 CD14 molecule GBrowse link Susceptibility ISS 18 29,374,593 29,376,190 RGD:4144796 RGD
G Cd14 CD14 molecule GBrowse link ISS 18 29,374,593 29,376,190 RGD:4144794 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4140440 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4140481 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:734772 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4140442 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4140464 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link Severity ISS 4 43,874,852 44,041,870 RGD:4140401 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link Severity ISS 4 43,874,852 44,041,870 RGD:4140439 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4140435 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4140465 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4140428 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4140429 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link Severity ISS 4 43,874,852 44,041,870 RGD:4140394 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link Severity ISS 4 43,874,852 44,041,870 RGD:4140436 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4140422 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link Severity ISS 4 43,874,852 44,041,870 RGD:4140450 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:4139910 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link Severity ISS 4 43,874,852 44,041,870 RGD:4140438 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link Disease_progression ISS 4 43,874,852 44,041,870 RGD:4140392 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link No_Association ISS 4 43,874,852 44,041,870 RGD:4140393 RGD
G Cftr cystic fibrosis transmembrane conductance regulator GBrowse link ISS 4 43,874,852 44,041,870 RGD:7240710 OMIM
G Clca1 chloride channel accessory 1 GBrowse link ISS 2 243,057,135 243,084,146 RGD:4145657 RGD
G Clcn2 chloride channel, voltage-sensitive 2 GBrowse link IED 11 82,427,792 82,441,293 RGD:704390 RGD
G Csf3r colony stimulating factor 3 receptor (granulocyte) GBrowse link ISS 5 145,374,596 145,394,045 RGD:5133738 RGD
G Cxcl1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) GBrowse link ISS 14 18,690,339 18,692,118 RGD:5135456 RGD
G Cxcl1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) GBrowse link ISS 14 18,690,339 18,692,118 RGD:5135034 RGD
G Cxcl1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) GBrowse link ISS 14 18,690,339 18,692,118 RGD:5135034 RGD
G Cxcl2 chemokine (C-X-C motif) ligand 2 GBrowse link ISS 14 18,677,129 18,679,175 RGD:5135034 RGD
G Cxcl2 chemokine (C-X-C motif) ligand 2 GBrowse link ISS 14 18,677,129 18,679,175 RGD:5135034 RGD
G Cxcl9 chemokine (C-X-C motif) ligand 9 GBrowse link ISS 14 17,284,085 17,288,996 RGD:5135456 RGD
G Cxcr2 chemokine (C-X-C motif) receptor 2 GBrowse link ISS 9 73,470,943 73,477,315 RGD:5135034 RGD
G Cxcr3 chemokine (C-X-C motif) receptor 3 GBrowse link ISS X 89,794,276 89,796,927 RGD:4145632 RGD
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 GBrowse link Severity ISS 8 61,462,207 61,468,237 RGD:4889126 RGD
G Defb4 defensin beta 4 GBrowse link ISS 16 75,442,005 75,445,196 RGD:4892267 RGD
G Edn1 endothelin 1 GBrowse link ISS 17 28,303,886 28,309,775 RGD:4145062 RGD
G Gclc glutamate-cysteine ligase, catalytic subunit GBrowse link ISS 8 82,724,429 82,762,848 RGD:5134682 RGD
G Gstm3 glutathione S-transferase mu 3 GBrowse link ISS 2 203,532,363 203,537,135 RGD:5135040 RGD
G Havcr2 hepatitis A virus cellular receptor 2 GBrowse link ISS 10 31,585,703 31,610,825 RGD:5135530 RGD
G Hmox1 heme oxygenase (decycling) 1 GBrowse link ISS 19 13,963,139 13,969,960 RGD:4145410 RGD
G Hspa1a heat shock protein 1A GBrowse link ISS 20 3,945,716 3,959,552 RGD:6767553 RGD
G Il13 interleukin 13 GBrowse link ISS 10 39,093,512 39,096,069 RGD:4312589 RGD
G Il17a interleukin 17A GBrowse link ISS 9 19,454,979 19,458,467 RGD:4889105 RGD
G Il17a interleukin 17A GBrowse link ISS 9 19,454,979 19,458,467 RGD:4889130 RGD
G Il18 interleukin 18 GBrowse link ISS 8 53,936,584 53,943,228 RGD:4889551 RGD
G Il18bp interleukin 18 binding protein GBrowse link ISS 1 159,471,809 159,473,288 RGD:4889551 RGD
G Il1a interleukin 1 alpha GBrowse link Severity ISS 3 116,913,612 116,924,114 RGD:4142849 RGD
G Il1b interleukin 1 beta GBrowse link Severity ISS 3 116,964,422 116,970,867 RGD:4142844 RGD
G Il1b interleukin 1 beta GBrowse link ISS 3 116,964,422 116,970,867 RGD:4143181 RGD
G Il1rn interleukin 1 receptor antagonist GBrowse link ISS 3 2,607,800 2,613,216 RGD:4143181 RGD
G Il1rn interleukin 1 receptor antagonist GBrowse link ISS 3 2,607,800 2,613,216 RGD:4143175 RGD
G Il6 interleukin 6 GBrowse link ISS 4 456,799 461,376 RGD:4143275 RGD
G Il6 interleukin 6 GBrowse link ISS 4 456,799 461,376 RGD:5128672 RGD
G Il9 interleukin 9 GBrowse link ISS 17 14,068,757 14,071,880 RGD:5128699 RGD
G Il9r interleukin 9 receptor GBrowse link ISS 10 15,678,793 15,690,250 RGD:5128699 RGD
G Irf1 interferon regulatory factor 1 GBrowse link ISS 10 39,220,600 39,227,602 RGD:5128720 RGD
G Lep leptin GBrowse link Severity ISS 4 55,943,837 55,945,938 RGD:5128819 RGD
G Lta lymphotoxin alpha (TNF superfamily, member 1) GBrowse link ISS 20 3,657,842 3,659,848 RGD:6767553 RGD
G Mbl2 mannose-binding lectin (protein C) 2 GBrowse link Severity ISS 1 233,978,931 233,983,824 RGD:4889443 RGD
G Mbl2 mannose-binding lectin (protein C) 2 GBrowse link Severity ISS 1 233,978,931 233,983,824 RGD:4889447 RGD
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) GBrowse link Severity ISS 20 13,191,986 13,192,851 RGD:4891053 RGD
G Mmp9 matrix metallopeptidase 9 GBrowse link ISS 3 155,985,473 155,993,433 RGD:5129526 RGD
G Mmp9 matrix metallopeptidase 9 GBrowse link ISS 3 155,985,473 155,993,433 RGD:5130723 RGD
G Mpo myeloperoxidase GBrowse link ISS 10 76,085,872 76,097,012 RGD:5130986 RGD
G Mpo myeloperoxidase GBrowse link severity ISS 10 76,085,872 76,097,012 RGD:5130968 RGD
G Muc1 mucin 1, cell surface associated GBrowse link IEP 2 181,399,482 181,403,640 RGD:5131272 RGD
G Muc2 mucin 2, oligomeric mucus/gel-forming IEP RGD:5131426 RGD
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISS RGD:5131191 RGD
G Muc5b mucin 5B, oligomeric mucus/gel-forming GBrowse link ISS 1 201,962,340 201,997,147 RGD:5131194 RGD
G Muc5b mucin 5B, oligomeric mucus/gel-forming GBrowse link ISS 1 201,962,340 201,997,147 RGD:5131191 RGD
G Ndufs1 NADH dehydrogenase (ubiquinone) Fe-S protein 1 GBrowse link ISS 9 61,798,141 61,831,964 RGD:6484688 RGD
G Nos1 nitric oxide synthase 1, neuronal GBrowse link Disease_progression ISS 12 39,812,500 39,869,484 RGD:5132627 RGD
G Nos1 nitric oxide synthase 1, neuronal GBrowse link ISS 12 39,812,500 39,869,484 RGD:5132865 RGD
G Nos1 nitric oxide synthase 1, neuronal GBrowse link ISS 12 39,812,500 39,869,484 RGD:5132868 RGD
G Nos2 nitric oxide synthase 2, inducible GBrowse link ISS 10 65,036,884 65,072,453 RGD:4891958 RGD
G Nos3 nitric oxide synthase 3, endothelial cell GBrowse link ISS 4 6,158,847 6,179,441 RGD:4892049 RGD
G Ppara peroxisome proliferator activated receptor alpha GBrowse link ISS 7 123,729,774 123,807,090 RGD:5683626 RGD
G Prss1 protease, serine, 1 (trypsin 1) GBrowse link IEP 4 69,185,877 69,189,080 RGD:1599967 RGD
G Ptgdr2 prostaglandin D2 receptor 2 GBrowse link ISS 1 213,437,202 213,438,498 RGD:5135022 RGD
G Ptgs2 prostaglandin-endoperoxide synthase 2 GBrowse link ISS 13 64,427,288 64,432,978 RGD:5135298 RGD
G Ptgs2 prostaglandin-endoperoxide synthase 2 GBrowse link ISS 13 64,427,288 64,432,978 RGD:5135523 RGD
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 GBrowse link ISS 20 1,412,553 1,416,692 RGD:5144066 RGD
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N GBrowse link Severity ISS 6 128,461,775 128,469,309 RGD:5147439 RGD
G Sftpa1 surfactant protein A1 GBrowse link ISS 16 17,570,887 17,574,389 RGD:4143403 RGD
G Sftpb surfactant protein B GBrowse link ISS 4 105,609,410 105,618,452 RGD:4143381 RGD
G Sftpc surfactant protein C GBrowse link ISS 15 50,923,105 50,926,047 RGD:4143403 RGD
G Sftpd surfactant protein D ISS RGD:4143502 RGD
G Tgfb1 transforming growth factor, beta 1 GBrowse link ISS 1 80,894,705 80,911,020 RGD:4145125 RGD
G Tgfb1 transforming growth factor, beta 1 GBrowse link ISS 1 80,894,705 80,911,020 RGD:7240710 OMIM
G Tlr4 toll-like receptor 4 GBrowse link Severity ISS 5 83,564,100 83,577,735 RGD:4144179 RGD
G Tlr4 toll-like receptor 4 GBrowse link ISS 5 83,564,100 83,577,735 RGD:4144105 RGD
G Tlr5 toll-like receptor 5 GBrowse link Resistance ISS 13 99,025,501 99,029,755 RGD:5129499 RGD
G Tlr5 toll-like receptor 5 GBrowse link ISS 13 99,025,501 99,029,755 RGD:5129506 RGD
G Tlr9 toll-like receptor 9 ISS RGD:5130208 RGD
G Tnf tumor necrosis factor GBrowse link ISS 20 3,661,000 3,663,618 RGD:4142846 RGD
S SDT/CrljJcl TAS RGD:628479 RGD
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