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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 |
|---|---|---|---|
| 5652 | PRSS8 | serine protease 8 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6403 | SELP | selectin P | |
| 6440 | SFTPC | surfactant protein C | |
| 6441 | SFTPD | surfactant protein D | |
| 6476 | SI | sucrase-isomaltase | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
| 7099 | TLR4 | toll like receptor 4 |
| 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:0002105 | Hemoptysis |
| HP:0100582 | Nasal polyposis |
| HP:0001392 | Abnormality of the liver |
| HP:0002842 | Recurrent Burkholderia cepacia infections |
| HP:0000739 | Anxiety |
| HP:0002570 | Steatorrhea |
| HP:0005376 | Recurrent Haemophilus influenzae infections |
| HP:0002020 | Gastroesophageal reflux |
| HP:0000365 | Hearing impairment |
| HP:0002110 | Bronchiectasis |
