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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cystic fibrosis
Summary
- Synonym
-
- CF
- mucoviscidosis
- Definition
- A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:1485
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3596 | IL13 | interleukin 13 | |
| 3605 | IL17A | interleukin 17A | |
| 3952 | LEP | leptin | |
| 4049 | LTA | lymphotoxin alpha | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4282 | MIF | macrophage migration inhibitory factor | |
| 4318 | MMP9 | matrix metallopeptidase 9 | |
| 4353 | MPO | myeloperoxidase | |
| 4582 | MUC1 | mucin 1, cell surface associated | |
| 4583 | MUC2 | mucin 2, oligomeric mucus/gel-forming |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 21857 | Timp1 | tissue inhibitor of metalloproteinase 1 | |
| 21898 | Tlr4 | toll-like receptor 4 | |
| 21926 | Tnf | tumor necrosis factor | |
| 21947 | Cd40lg | CD40 ligand | |
| 23844 | Clca1 | chloride channel accessory 1 | |
| 27413 | Abcb11 | ATP-binding cassette, sub-family B member 11 | |
| 53791 | Tlr5 | toll-like receptor 5 | |
| 74069 | Serpina3a | serine (or cysteine) peptidase inhibitor, clade A, member 3A | |
| 74180 | Muc5b | mucin 5, subtype B, tracheobronchial | |
| 77706 | Abcb5 | ATP-binding cassette, sub-family B member 5 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24255 | Cftr | CF transmembrane conductance regulator | |
| 24296 | Cyp1a1 | cytochrome P450, family 1, subfamily a, polypeptide 1 | |
| 24484 | Igfbp3 | insulin-like growth factor binding protein 3 | |
| 24493 | Il1a | interleukin 1 alpha | |
| 24598 | Nos1 | nitric oxide synthase 1 | |
| 24600 | Nos3 | nitric oxide synthase 3 | |
| 24767 | Scnn1b | sodium channel epithelial 1 subunit beta | |
| 24770 | Ccl2 | C-C motif chemokine ligand 2 | |
| 24773 | Sftpa1 | surfactant protein A1 | |
| 24794 | Serpina3c | serine (or cysteine) proteinase inhibitor, clade A, member 3C |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34091 | Spn28Dc | Serpin 28Dc | |
| 34714 | Edem2 | ER degradation enhancer, mannosidase alpha-like 2 | |
| 36428 | Mdr49 | Multi drug resistance 49 | |
| 38326 | Pxn | Peroxidasin | |
| 38726 | Mdr65 | Multi drug resistance 65 | |
| 41549 | Octbeta2R | Octopamine beta2 receptor | |
| 42652 | Octbeta1R | Octopamine beta1 receptor | |
| 43222 | Tl | Toll | |
| 47905 | l(2)03659 | lethal (2) 03659 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002105 | Hemoptysis |
| HP:0100582 | Nasal polyposis |
| HP:0001392 | Abnormality of the liver |
| HP:0002842 | Recurrent Burkholderia cepacia infections |
| HP:0000739 | Anxiety |
| HP:0002570 | Steatorrhea |
| HP:0005376 | Recurrent Haemophilus influenzae infections |
| HP:0002020 | Gastroesophageal reflux |
| HP:0000365 | Hearing impairment |
| HP:0002110 | Bronchiectasis |
