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 adrenoceptor beta 1 JBrowse link 10 114,044,047 114,046,908 RGD:5129107
G ADRB2 adrenoceptor beta 2 JBrowse link 5 148,826,593 148,828,634 RGD:5129107
RGD:4145099
G ADRB3 adrenoceptor beta 3 JBrowse link 8 37,962,995 37,966,666 RGD:5129107
G AGER advanced glycosylation end-product specific receptor JBrowse link 6 32,180,968 32,184,380 RGD:6767553
RGD:8695959
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 156,241,962 156,243,332 RGD:6483578
G C5 complement C5 JBrowse link 9 120,952,335 121,075,174 RGD:5130162
G CCL11 C-C motif chemokine ligand 11 JBrowse link 17 34,285,668 34,288,180 RGD:4145455
G CCL17 C-C motif chemokine ligand 17 JBrowse link 16 57,396,076 57,416,063 RGD:4145491
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 34,255,277 34,257,203 RGD:4143275
G CCL4 C-C motif chemokine ligand 4 JBrowse link 17 36,103,827 36,105,621 RGD:5130907
RGD:5130902
G CCR3 C-C motif chemokine receptor 3 JBrowse link 3 46,210,699 46,266,706 RGD:4145632
G CD14 CD14 molecule JBrowse link 5 140,631,728 140,633,701 RGD:4144794
RGD:4144796
G CD40LG CD40 ligand JBrowse link X 136,648,177 136,660,390 RGD:7248443
G CFTR cystic fibrosis transmembrane conductance regulator JBrowse link 7 117,479,963 117,668,665 RGD:4140392
RGD:8554872
RGD:11554173
RGD:7240710
RGD:11566051
RGD:4139910
RGD:4140422
RGD:4140440
RGD:4140465
RGD:4140428
RGD:4140439
RGD:4140464
RGD:4140435
RGD:4140429
RGD:4140481
RGD:4140393
RGD:4140442
RGD:4140450
RGD:4140438
RGD:4140394
RGD:4140436
RGD:4140401
RGD:734772
G CFTR-AS1 CFTR antisense RNA 1 JBrowse link 7 117,542,521 117,564,676 RGD:8554872
G CLCA1 chloride channel accessory 1 JBrowse link 1 86,468,843 86,500,294 RGD:4145657
G CSF3R colony stimulating factor 3 receptor JBrowse link 1 36,466,043 36,483,314 RGD:5133738
G CXCL1 C-X-C motif chemokine ligand 1 JBrowse link 4 73,869,392 73,871,302 RGD:5135034
RGD:5135456
G CXCL2 C-X-C motif chemokine ligand 2 JBrowse link 4 74,097,035 74,099,280 RGD:5135034
G CXCL8 C-X-C motif chemokine ligand 8 JBrowse link 4 73,740,506 73,743,716 RGD:5135034
G CXCL9 C-X-C motif chemokine ligand 9 JBrowse link 4 76,001,342 76,007,523 RGD:5135456
G CXCR2 C-X-C motif chemokine receptor 2 JBrowse link 2 218,125,290 218,137,253 RGD:5135034
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 71,615,913 71,618,517 RGD:4145632
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 JBrowse link 15 74,719,542 74,725,610 RGD:4889126
G DCTN4 dynactin subunit 4 JBrowse link 5 150,708,747 150,759,095 RGD:11554173
G DEFB4A defensin beta 4A JBrowse link 8 7,894,565 7,896,716 RGD:4892267
G EDN1 endothelin 1 JBrowse link 6 12,256,463 12,297,194 RGD:4145062
G FAS Fas cell surface death receptor JBrowse link 10 88,968,429 89,017,061 RGD:12903971
G FASLG Fas ligand JBrowse link 1 172,659,008 172,666,873 RGD:12904024
G FCGR2A Fc fragment of IgG receptor IIa JBrowse link 1 161,505,415 161,524,048 RGD:8554872
RGD:7240710
G GCLC glutamate-cysteine ligase catalytic subunit JBrowse link 6 53,497,341 53,545,129 RGD:5134682
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 109,687,796 109,693,745 RGD:10401929
RGD:12798506
RGD:12792246
RGD:12792207
G GSTM3 glutathione S-transferase mu 3 JBrowse link 1 109,733,932 109,741,038 RGD:5135040
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 67,583,595 67,586,653 RGD:1331525
G GSTT1 glutathione S-transferase theta 1 RGD:12792207
RGD:12792246
RGD:10401929
G HAVCR2 hepatitis A virus cellular receptor 2 JBrowse link 5 157,085,832 157,109,237 RGD:5135530
G HLA-G major histocompatibility complex, class I, G JBrowse link 6 29,826,967 29,831,130 RGD:5144066
G HMOX1 heme oxygenase 1 JBrowse link 22 35,381,067 35,394,214 RGD:4145410
G HSPA1A heat shock protein family A (Hsp70) member 1A JBrowse link 6 31,815,514 31,817,942 RGD:6767553
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 2 197,486,584 197,500,274 RGD:12910480
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:12904899
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 45,912,245 45,921,272 RGD:12743589
G IL13 interleukin 13 JBrowse link 5 132,656,524 132,661,109 RGD:4312589
G IL17A interleukin 17A JBrowse link 6 52,186,387 52,190,638 RGD:4889105
RGD:4889130
G IL18 interleukin 18 JBrowse link 11 112,143,251 112,164,117 RGD:4889551
G IL18BP interleukin 18 binding protein JBrowse link 11 71,997,944 72,002,919 RGD:4889551
G IL1A interleukin 1 alpha JBrowse link 2 112,773,915 112,785,398 RGD:4142849
G IL1B interleukin 1 beta JBrowse link 2 112,829,758 112,836,843 RGD:4142844
RGD:4143181
G IL1RN interleukin 1 receptor antagonist JBrowse link 2 113,099,365 113,134,016 RGD:4143181
RGD:4143175
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:4143275
RGD:5128672
G IL9 interleukin 9 JBrowse link 5 135,892,246 135,895,827 RGD:5128699
G IL9R interleukin 9 receptor JBrowse link X
Y
155,997,581
57,184,101
156,013,017
57,199,537
RGD:5128699
G IRF1 interferon regulatory factor 1 JBrowse link 5 132,481,609 132,490,789 RGD:5128720
G LEP leptin JBrowse link 7 128,241,201 128,257,629 RGD:5128819
G LTA lymphotoxin alpha JBrowse link 6 31,560,550 31,574,324 RGD:6767553
G MBL2 mannose binding lectin 2 JBrowse link 10 52,764,977 52,772,847 RGD:4889447
RGD:4889443
G MIF macrophage migration inhibitory factor JBrowse link 22 23,894,378 23,895,222 RGD:4891053
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:5130723
RGD:13204794
G MPO myeloperoxidase JBrowse link 17 58,269,856 58,280,935 RGD:5130986
RGD:5130968
G MUC1 mucin 1, cell surface associated JBrowse link 1 155,185,824 155,192,915 RGD:5131272
G MUC2 mucin 2, oligomeric mucus/gel-forming JBrowse link 11 1,074,875 1,110,508 RGD:5131426
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming JBrowse link 11 1,157,953 1,201,138 RGD:5131191
G MUC5B mucin 5B, oligomeric mucus/gel-forming JBrowse link 11 1,223,065 1,262,176 RGD:5131194
RGD:5131191
G MUC6 mucin 6, oligomeric mucus/gel-forming JBrowse link 11 1,012,824 1,036,706 RGD:7364748
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 2 206,123,079 206,159,519 RGD:6484688
G NOS1 nitric oxide synthase 1 JBrowse link 12 117,208,142 117,361,802 RGD:5132865
RGD:5132627
RGD:5132868
G NOS2 nitric oxide synthase 2 JBrowse link 17 27,756,766 27,800,529 RGD:4891958
G NOS3 nitric oxide synthase 3 JBrowse link 7 150,991,056 151,014,599 RGD:4892049
G PPARA peroxisome proliferator activated receptor alpha JBrowse link 22 46,150,534 46,243,756 RGD:5683626
G PRSS1 serine protease 1 JBrowse link 7 142,740,235 142,753,076 RGD:1599967
G PTGDR2 prostaglandin D2 receptor 2 JBrowse link 11 60,850,925 60,855,971 RGD:5135022
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 186,671,812 186,680,427 RGD:5135298
RGD:5135523
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 12 6,346,843 6,377,357 RGD:11554173
G SCNN1B sodium channel epithelial 1 beta subunit JBrowse link 16 23,278,231 23,381,299 RGD:11554173
G SCNN1G sodium channel epithelial 1 gamma subunit JBrowse link 16 23,182,719 23,216,879 RGD:11554173
G SERPINA3 serpin family A member 3 JBrowse link 14 94,612,377 94,624,053 RGD:5147439
G SFTPA1 surfactant protein A1 JBrowse link 10 79,610,939 79,615,443 RGD:4143403
G SFTPB surfactant protein B JBrowse link 2 85,657,317 85,668,741 RGD:4143381
G SFTPC surfactant protein C JBrowse link 8 22,161,671 22,164,479 RGD:4143403
G SFTPD surfactant protein D JBrowse link 10 79,937,740 79,982,236 RGD:4143502
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,883 RGD:4145125
RGD:7240710
RGD:8554872
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 47,582,291 47,586,791 RGD:13204794
G TLR4 toll like receptor 4 JBrowse link 9 117,704,175 117,717,491 RGD:4144105
RGD:4144179
G TLR5 toll like receptor 5 JBrowse link 1 223,108,401 223,143,282 RGD:5129499
RGD:5129506
G TLR9 toll like receptor 9 JBrowse link 3 52,221,080 52,226,163 RGD:5130208
G TNF tumor necrosis factor JBrowse link 6 31,575,567 31,578,336 RGD:4142846
RGD:6767553
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,328,757 6,342,117 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 1 205,913,048 205,943,472 RGD:11554173
G SLC6A14 solute carrier family 6 member 14 JBrowse link X 116,436,579 116,461,458 RGD:11554173
G SLC9A3 solute carrier family 9 member A3 JBrowse link 5 471,986 524,434 RGD:11554173

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Path 1
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  disease 15498
    disease of anatomical entity 14313
      gastrointestinal system disease 4051
        pancreas disease 840
          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 15498
    Developmental Diseases 9002
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7331
        genetic disease 6511
          monogenic disease 2980
            autosomal genetic disease 2219
              autosomal recessive disease 1319
                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.