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 28 24,908,224 24,909,684 RGD:9068941
G ADRB2 adrenoceptor beta 2 JBrowse link 4 60,048,502 60,050,447 RGD:9068941
G ADRB3 adrenoceptor beta 3 JBrowse link 16 27,445,601 27,446,796 RGD:9068941
G AGER advanced glycosylation end-product specific receptor JBrowse link 12 1,574,251 1,577,410 RGD:9068941
G B9D2 B9 domain containing 2 JBrowse link 1 112,621,832 112,627,726 RGD:7240710
RGD:9068941
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 7 41,630,092 41,630,976 RGD:9068941
G C5 complement C5 JBrowse link 11 73,953,727 74,029,919 RGD:9068941
G CCL17 C-C motif chemokine ligand 17 JBrowse link 2 59,001,463 59,014,347 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 9 39,008,187 39,009,932 RGD:9068941
G CCL4 chemokine (C-C motif) ligand 4 JBrowse link 9 37,681,342 37,682,691 RGD:9068941
G CCR3 C-C motif chemokine receptor 3 JBrowse link 20 42,382,380 42,398,449 RGD:9068941
G CD14 CD14 molecule JBrowse link 2 35,790,505 35,792,967 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 107,001,421 107,023,007 RGD:9068941
G CFTR cystic fibrosis transmembrane conductance regulator JBrowse link 14 56,290,417 56,452,919 RGD:7240710
RGD:9068941
G CLCA1 chloride channel accessory 1 JBrowse link 6 61,620,755 61,650,111 RGD:9068941
G CSF3R colony stimulating factor 3 receptor JBrowse link 15 5,818,985 5,832,455 RGD:9068941
G CXCL8 C-X-C motif chemokine ligand 8 JBrowse link 13 62,435,035 62,438,354 RGD:9068941
G CXCR2 C-X-C motif chemokine receptor 2 JBrowse link 37 24,831,351 24,846,387 RGD:9068941
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 55,882,433 55,884,582 RGD:9068941
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 JBrowse link 30 37,793,277 37,799,535 RGD:9068941
G DCTN4 dynactin subunit 4 JBrowse link 4 58,423,591 58,453,055 RGD:9068941
G DEFB4A defensin, beta 4A JBrowse link 16 58,953,916 58,956,407 RGD:9068941
G EDN1 endothelin 1 JBrowse link 35 11,808,892 11,815,383 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 26 38,738,811 38,763,298 RGD:9068941
G FASLG Fas ligand JBrowse link 7 26,335,837 26,344,224 RGD:9068941
G GCLC glutamate-cysteine ligase catalytic subunit JBrowse link 12 20,999,815 21,047,779 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 18 49,905,161 49,908,182 RGD:9068941
G HAVCR2 hepatitis A virus cellular receptor 2 JBrowse link 4 53,018,990 53,032,035 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 10 28,744,404 28,751,544 RGD:9068941
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 37 7,010,421 7,025,912 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941
G IL13 interleukin 13 JBrowse link 11 20,957,870 20,961,391 RGD:9068941
G IL17A interleukin 17A JBrowse link 12 19,854,129 19,862,521 RGD:9068941
G IL18 interleukin 18 JBrowse link 5 20,972,742 20,995,327 RGD:9068941
G IL18BP interleukin 18 binding protein JBrowse link 21 26,076,515 26,080,741 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 17 36,969,581 36,979,445 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 17 37,236,690 37,250,424 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G IL9 interleukin 9 JBrowse link 11 23,808,919 23,814,085 RGD:9068941
G IRF1 interferon regulatory factor 1 JBrowse link 11 20,773,801 20,781,106 RGD:9068941
G LEP leptin JBrowse link 14 8,115,396 8,130,946 RGD:9068941
G LOC479911 glutathione S-transferase Mu 3 JBrowse link 6 42,187,869 42,191,274 RGD:9068941
G LOC480425 alpha-1-antichymotrypsin JBrowse link 8 63,588,188 63,596,955 RGD:9068941
G LOC610540 pulmonary surfactant-associated protein A-like JBrowse link 4 29,430,139 29,434,640 RGD:9068941
G LOC611642 interleukin-9 receptor JBrowse link 6 40,425,072 40,437,917 RGD:9068941
G LTA lymphotoxin alpha JBrowse link 12 1,070,608 1,073,053 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 4 29,419,886 29,424,377 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G MPO myeloperoxidase JBrowse link 9 32,927,483 32,938,007 RGD:9068941
G MUC1 mucin 1, cell surface associated JBrowse link 7 42,338,939 42,344,690 RGD:9068941
G MUC2 mucin 2, oligomeric mucus/gel-forming JBrowse link 18 45,416,347 45,438,226 RGD:9068941
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming JBrowse link 18 45,471,232 45,498,961 RGD:9068941
G MUC5B mucin 5B, oligomeric mucus/gel-forming JBrowse link 18 45,517,479 45,545,765 RGD:9068941
G MUC6 mucin 6, oligomeric mucus/gel-forming JBrowse link 18 45,359,412 45,376,678 RGD:9068941
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 37 14,680,908 14,713,838 RGD:9068941
G NOS1 nitric oxide synthase 1 JBrowse link 26 13,787,341 13,895,176 RGD:9068941
G NOS2 nitric oxide synthase 2 JBrowse link 9 42,171,821 42,210,217 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 16 15,054,196 15,072,454 RGD:9068941
G PPARA peroxisome proliferator activated receptor alpha JBrowse link 10 19,934,020 20,006,096 RGD:9068941
G PTGDR2 prostaglandin D2 receptor 2 JBrowse link 18 55,426,632 55,431,916 RGD:9068941
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 7 19,668,079 19,674,903 RGD:9068941
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 27 38,612,206 38,638,212 RGD:9068941
G SCNN1B sodium channel epithelial 1 beta subunit JBrowse link 6 22,439,643 22,481,349 RGD:9068941
G SCNN1G sodium channel epithelial 1 gamma subunit JBrowse link 6 22,566,568 22,593,479 RGD:9068941
G SFTPB surfactant protein B JBrowse link 17 39,419,305 39,428,513 RGD:9068941
G SFTPC surfactant protein C JBrowse link 25 35,088,295 35,090,995 RGD:9068941
G SFTPD surfactant protein D JBrowse link 4 29,394,755 29,407,499 RGD:9068941
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 41,201,623 41,205,314 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 11 71,356,390 71,367,166 RGD:9068941
G TLR5 toll like receptor 5 JBrowse link 38 23,700,323 23,705,628 RGD:9068941
G TLR9 toll like receptor 9 JBrowse link 20 37,529,322 37,547,117 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 27 38,641,837 38,654,693 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 38 2,267,404 2,303,997 RGD:9068941
G SLC6A14 solute carrier family 6 member 14 JBrowse link X 88,939,176 88,965,093 RGD:9068941
G SLC9A3 solute carrier family 9 member A3 JBrowse link 34 11,748,556 11,785,209 RGD:9068941

Term paths to the root
Path 1
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  disease 11301
    disease of anatomical entity 10812
      gastrointestinal system disease 3699
        pancreas disease 768
          cystic fibrosis 78
            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 11301
    Developmental Diseases 7251
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6308
        genetic disease 5586
          monogenic disease 2681
            autosomal genetic disease 2020
              autosomal recessive disease 1202
                cystic fibrosis 78
                  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.