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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 |
|---|---|---|---|
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5315 | PKM | pyruvate kinase M1/2 | |
| 5320 | PLA2G2A | phospholipase A2 group IIA | |
| 5321 | PLA2G4A | phospholipase A2 group IVA | |
| 5331 | PLCB3 | phospholipase C beta 3 | |
| 5333 | PLCD1 | phospholipase C delta 1 | |
| 5465 | PPARA | peroxisome proliferator activated receptor alpha | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5648 | MASP1 | MBL associated serine protease 1 |
| 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 |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P09848 | Lactase/phlorizin hydrolase | |
| P11226 | Mannose-binding protein C | |
| P12821 | Angiotensin-converting enzyme | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P14555 | Phospholipase A2, membrane associated | |
| P14618 | Pyruvate kinase PKM | |
| P15813 | Antigen-presenting glycoprotein CD1d | |
| P15848 | Arylsulfatase B | |
| P16109 | P-selectin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006536 | Airway obstruction |
| HP:0002024 | Malabsorption |
| HP:0000787 | Nephrolithiasis |
| HP:0002724 | Recurrent Aspergillus infections |
| HP:0012873 | Absent vas deferens |
| HP:0002099 | Asthma |
| HP:0000939 | Osteoporosis |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0000716 | Depression |
| HP:0002205 | Recurrent respiratory infections |
