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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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 50 | ACO2 | aconitase 2 | |
| 155 | ADRB3 | adrenoceptor beta 3 | |
| 308 | ANXA5 | annexin A5 | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 411 | ARSB | arylsulfatase B | |
| 412 | STS | steroid sulfatase | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 811 | CALR | calreticulin |
| 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: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 |
