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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 |
|---|---|---|---|
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4351 | MPI | mannose phosphate isomerase | |
| 4680 | CEACAM6 | CEA cell adhesion molecule 6 | |
| 5105 | PCK1 | phosphoenolpyruvate carboxykinase 1 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5238 | PGM3 | phosphoglucomutase 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11554 | Adrb1 | adrenergic receptor, beta 1 | |
| 14629 | Gclc | glutamate-cysteine ligase, catalytic subunit | |
| 16846 | Lep | leptin | |
| 19013 | Ppara | peroxisome proliferator activated receptor alpha | |
| 21898 | Tlr4 | toll-like receptor 4 | |
| 21926 | Tnf | tumor necrosis factor | |
| 192193 | Edem1 | ER degradation enhancer, mannosidase alpha-like 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NR71 | Neutral ceramidase |
- 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 |
