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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 |
|---|---|---|---|
| 4586 | MUC5AC | mucin 5AC, oligomeric mucus/gel-forming | |
| 4842 | NOS1 | nitric oxide synthase 1 | |
| 4843 | NOS2 | nitric oxide synthase 2 | |
| 4846 | NOS3 | nitric oxide synthase 3 | |
| 5243 | ABCB1 | ATP binding cassette subfamily B member 1 | |
| 5244 | ABCB4 | ATP binding cassette subfamily B member 4 | |
| 5465 | PPARA | peroxisome proliferator activated receptor alpha | |
| 5644 | PRSS1 | serine protease 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 5806 | PTX3 | pentraxin 3 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 14102 | Fas | Fas cell surface death receptor | |
| 14103 | Fasl | Fas ligand | |
| 14130 | Fcgr2b | Fc receptor, IgG, low affinity IIb | |
| 14131 | Fcgr3 | Fc receptor, IgG, low affinity III | |
| 14629 | Gclc | glutamate-cysteine ligase, catalytic subunit | |
| 14764 | Ptgdr2 | prostaglandin D2 receptor 2 | |
| 14964 | H2-D1 | histocompatibility 2, D region locus 1 | |
| 14972 | H2-K1 | histocompatibility 2, K1, K region | |
| 14990 | H2-M2 | histocompatibility 2, M region locus 2 | |
| 14991 | H2-M3 | histocompatibility 2, M region locus 3 |
| 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 |
