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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 |
|---|---|---|---|
| 2720 | GLB1 | galactosidase beta 1 | |
| 2729 | GCLC | glutamate-cysteine ligase catalytic subunit | |
| 2990 | GUSB | glucuronidase beta | |
| 3073 | HEXA | hexosaminidase subunit alpha | |
| 3291 | HSD11B2 | hydroxysteroid 11-beta dehydrogenase 2 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3635 | INPP5D | inositol polyphosphate-5-phosphatase D | |
| 3938 | LCT | lactase | |
| 3952 | LEP | leptin |
| 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 |
