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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
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12 | SERPINA3 | serpin family A member 3 | |
| 154 | ADRB2 | adrenoceptor beta 2 | |
| 177 | AGER | advanced glycosylation end-product specific receptor | |
| 355 | FAS | Fas cell surface death receptor | |
| 929 | CD14 | CD14 molecule | |
| 1080 | CFTR | CF transmembrane conductance regulator | |
| 1543 | CYP1A1 | cytochrome P450 family 1 subfamily A member 1 | |
| 2212 | FCGR2A | Fc gamma receptor IIa | |
| 2729 | GCLC | glutamate-cysteine ligase catalytic subunit | |
| 3077 | HFE | homeostatic iron regulator |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60602 | Toll-like receptor 5 | |
| P01011 | Alpha-1-antichymotrypsin | |
| P01137 | Transforming growth factor beta-1 proprotein | |
| P01374 | Lymphotoxin-alpha | |
| P01375 | Tumor necrosis factor | |
| P04798 | Cytochrome P450 1A1 | |
| P05164 | Myeloperoxidase | |
| P07550 | Beta-2 adrenergic receptor | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P0DMV8 | Heat shock 70 kDa protein 1A |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P26361 | Cystic fibrosis transmembrane conductance regulator | |
| Q9WU38 | Epithelial sodium channel subunit beta |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P34158 | Cystic fibrosis transmembrane conductance regulator |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q1LX78 | Cystic fibrosis transmembrane conductance regulator |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12866 | Alpha-factor-transporting ATPase | |
| P38888 | ER degradation-enhancing alpha-mannosidase-like protein 1 | |
| P53049 | Oligomycin resistance ATP-dependent permease YOR1 |
- 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 |
