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 10 114,075,628 114,076,596 RGD:9068941
G ADRB2 adrenoceptor beta 2 JBrowse link 5 150,267,321 150,269,339 RGD:9068941
G ADRB3 adrenoceptor beta 3 JBrowse link 8 34,440,099 34,444,043 RGD:9068941
G AGER advanced glycosylation end-product specific receptor JBrowse link 6 32,708,251 32,711,641 RGD:9068941
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 135,413,871 135,416,432 RGD:9068941
G C5 complement C5 JBrowse link 9 120,416,256 120,548,366 RGD:9068941
G CCL11 C-C motif chemokine ligand 11 JBrowse link 17 22,789,235 22,791,272 RGD:9068941
G CCL17 C-C motif chemokine ligand 17 JBrowse link 16 56,810,923 56,822,131 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CCR3 C-C motif chemokine receptor 3 JBrowse link 3 47,253,878 47,278,630 RGD:9068941
G CD14 CD14 molecule JBrowse link 5 142,113,082 142,115,023 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:9068941
G CFTR cystic fibrosis transmembrane conductance regulator JBrowse link 7 122,144,821 122,327,511 RGD:7240710
RGD:9068941
G CLCA1 chloride channel accessory 1 JBrowse link 1 87,852,383 87,884,267 RGD:9068941
G CSF3R colony stimulating factor 3 receptor JBrowse link 1 36,897,148 36,914,398 RGD:9068941
G CXCL1 C-X-C motif chemokine ligand 1 JBrowse link 4 56,157,626 56,159,522 RGD:9068941
G CXCL2 C-X-C motif chemokine ligand 2 JBrowse link 4 55,925,562 55,927,809 RGD:9068941
G CXCL8 C-X-C motif chemokine ligand 8 JBrowse link 4 56,285,026 56,288,308 RGD:9068941
G CXCL9 C-X-C motif chemokine ligand 9 JBrowse link 4 54,036,343 54,042,502 RGD:9068941
G CXCR2 C-X-C motif chemokine receptor 2 JBrowse link 2B 223,987,556 223,999,511 RGD:9068941
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 70,933,160 70,935,756 RGD:9068941
G DCTN4 dynactin subunit 4 JBrowse link 5 152,138,052 152,187,140 RGD:9068941
G EDN1 endothelin 1 JBrowse link 6 12,405,538 12,503,545 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 10 89,199,070 89,244,884 RGD:9068941
G FASLG Fas ligand JBrowse link 1 151,868,430 151,876,281 RGD:9068941
G FCGR2A Fc fragment of IgG receptor IIa RGD:7240710
RGD:9068941
G GCLC glutamate-cysteine ligase catalytic subunit JBrowse link 6 54,687,315 54,738,111 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G GSTM3 glutathione S-transferase mu 3 JBrowse link 1 127,956,485 127,960,583 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 66,253,421 66,256,472 RGD:9068941
G HAVCR2 hepatitis A virus cellular receptor 2 JBrowse link 5 159,107,938 159,134,973 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 22 34,230,825 34,244,063 RGD:9068941
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 2B 202,623,497 202,637,045 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,681,856 46,690,240 RGD:9068941
G IL13 interleukin 13 JBrowse link 5 134,235,788 134,240,548 RGD:9068941
G IL17A interleukin 17A JBrowse link 6 53,004,820 53,009,074 RGD:9068941
G IL18 interleukin 18 JBrowse link 11 110,867,586 110,888,371 RGD:9068941
G IL18BP interleukin 18 binding protein JBrowse link 11 70,302,923 70,307,511 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 2A 113,784,854 113,795,801 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G IL9 interleukin 9 JBrowse link 5 137,425,367 137,428,945 RGD:9068941
G IL9R interleukin 9 receptor JBrowse link X 155,373,324 155,386,631 RGD:9068941
G IRF1 interferon regulatory factor 1 JBrowse link 5 134,066,250 134,075,035 RGD:9068941
G LEP leptin JBrowse link 7 132,884,994 132,901,519 RGD:9068941
G LOC100976184 cytochrome P450 1A1 JBrowse link 15 73,284,566 73,290,636 RGD:9068941
G LTA lymphotoxin alpha JBrowse link 6 32,123,353 32,125,375 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 10 51,537,129 51,543,041 RGD:9068941
G MIF macrophage migration inhibitory factor JBrowse link 22 22,729,245 22,732,009 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G MPO myeloperoxidase JBrowse link 17 57,189,654 57,212,111 RGD:9068941
G MUC1 mucin 1, cell surface associated JBrowse link 1 134,141,969 134,146,791 RGD:9068941
G MUC2 mucin 2, oligomeric mucus/gel-forming JBrowse link 11 1,143,625 1,180,798 RGD:9068941
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming JBrowse link 11 1,225,362 1,272,411 RGD:9068941
G MUC5B mucin 5B, oligomeric mucus/gel-forming JBrowse link 11 1,294,135 1,327,011 RGD:9068941
G MUC6 mucin 6, oligomeric mucus/gel-forming JBrowse link 11 1,077,234 1,106,927 RGD:9068941
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 2B 211,493,021 211,528,496 RGD:9068941
G NOS1 nitric oxide synthase 1 JBrowse link 12 118,163,655 118,314,005 RGD:9068941
G NOS2 nitric oxide synthase 2 JBrowse link 17 29,477,285 29,519,412 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 154,730,009 154,755,233 RGD:9068941
G PPARA peroxisome proliferator activated receptor alpha JBrowse link 22 45,218,364 45,302,970 RGD:9068941
G PTGDR2 prostaglandin D2 receptor 2 JBrowse link 11 59,554,874 59,557,653 RGD:9068941
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 166,355,845 166,364,517 RGD:9068941
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 12 6,392,354 6,423,118 RGD:9068941
G SCNN1B sodium channel epithelial 1 beta subunit JBrowse link 16 23,555,391 23,634,873 RGD:9068941
G SCNN1G sodium channel epithelial 1 gamma subunit JBrowse link 16 23,435,793 23,469,969 RGD:9068941
G SERPINA3 serpin family A member 3 JBrowse link 14 94,551,934 94,579,515 RGD:9068941
G SFTPB surfactant protein B JBrowse link 2A 87,257,244 87,268,332 RGD:9068941
G SFTPC surfactant protein C JBrowse link 8 18,343,007 18,348,764 RGD:9068941
G SFTPD surfactant protein D JBrowse link 10 78,965,252 78,974,181 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:7240710
RGD:9068941
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 47,914,906 47,919,419 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G TLR5 toll like receptor 5 JBrowse link 1 203,797,720 203,831,605 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,374,256 6,387,613 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 1 185,805,689 185,836,074 RGD:9068941
G SLC6A14 solute carrier family 6 member 14 JBrowse link X 115,912,873 115,937,730 RGD:9068941
G SLC9A3 solute carrier family 9 member A3 JBrowse link 5 597,897 646,108 RGD:9068941

Term paths to the root
Path 1
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  disease 11150
    disease of anatomical entity 10664
      gastrointestinal system disease 3566
        pancreas disease 742
          cystic fibrosis 81
            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 11150
    Developmental Diseases 7190
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6261
        genetic disease 5547
          monogenic disease 2676
            autosomal genetic disease 2018
              autosomal recessive disease 1191
                cystic fibrosis 81
                  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.