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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 |
|---|---|---|---|
| 12 | SERPINA3 | serpin family A member 3 | |
| 153 | ADRB1 | adrenoceptor beta 1 | |
| 154 | ADRB2 | adrenoceptor beta 2 | |
| 155 | ADRB3 | adrenoceptor beta 3 | |
| 177 | AGER | advanced glycosylation end-product specific receptor | |
| 355 | FAS | Fas cell surface death receptor | |
| 356 | FASLG | Fas ligand | |
| 727 | C5 | complement C5 | |
| 929 | CD14 | CD14 molecule | |
| 959 | CD40LG | CD40 ligand |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 81897 | Tlr9 | toll-like receptor 9 | |
| 110557 | H2-Q6 | histocompatibility 2, Q region locus 6 | |
| 171285 | Havcr2 | hepatitis A virus cellular receptor 2 | |
| 192193 | Edem1 | ER degradation enhancer, mannosidase alpha-like 1 | |
| 193740 | Hspa1a | heat shock protein 1A | |
| 238393 | Serpina3f | serine (or cysteine) peptidase inhibitor, clade A, member 3F | |
| 238395 | Serpina3j | serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J | |
| 271047 | Serpina3b | serine (or cysteine) peptidase inhibitor, clade A, member 3B |
| 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:0003251 | Male infertility |
| HP:0001508 | Failure to thrive |
| HP:0012236 | Elevated sweat chloride |
| HP:0002035 | Rectal prolapse |
| HP:0000938 | Osteopenia |
| HP:0002726 | Recurrent Staphylococcus aureus infections |
| HP:0000246 | Sinusitis |
| HP:0002107 | Pneumothorax |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001394 | Cirrhosis |
