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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 |
|---|---|---|---|
| 1080 | CFTR | CF transmembrane conductance regulator | |
| 1179 | CLCA1 | chloride channel accessory 1 | |
| 1181 | CLCN2 | chloride voltage-gated channel 2 | |
| 1232 | CCR3 | C-C motif chemokine receptor 3 | |
| 1441 | CSF3R | colony stimulating factor 3 receptor | |
| 1543 | CYP1A1 | cytochrome P450 family 1 subfamily A member 1 | |
| 1906 | EDN1 | endothelin 1 | |
| 2212 | FCGR2A | Fc gamma receptor IIa | |
| 2729 | GCLC | glutamate-cysteine ligase catalytic subunit | |
| 2833 | CXCR3 | C-X-C motif chemokine receptor 3 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 15006 | H2-Q1 | histocompatibility 2, Q region locus 1 | |
| 15007 | H2-Q10 | histocompatibility 2, Q region locus 10 | |
| 15013 | H2-Q2 | histocompatibility 2, Q region locus 2 | |
| 15018 | H2-Q7 | histocompatibility 2, Q region locus 7 | |
| 15139 | Hc | hemolytic complement | |
| 15216 | Hfe | homeostatic iron regulator | |
| 15510 | Hspd1 | heat shock protein 1 (chaperonin) | |
| 16009 | Igfbp3 | insulin-like growth factor binding protein 3 | |
| 16068 | Il18bp | interleukin 18 binding protein | |
| 16163 | Il13 | interleukin 13 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24255 | Cftr | CF transmembrane conductance regulator | |
| 24296 | Cyp1a1 | cytochrome P450, family 1, subfamily a, polypeptide 1 | |
| 24484 | Igfbp3 | insulin-like growth factor binding protein 3 | |
| 24493 | Il1a | interleukin 1 alpha | |
| 24598 | Nos1 | nitric oxide synthase 1 | |
| 24600 | Nos3 | nitric oxide synthase 3 | |
| 24767 | Scnn1b | sodium channel epithelial 1 subunit beta | |
| 24770 | Ccl2 | C-C motif chemokine ligand 2 | |
| 24773 | Sftpa1 | surfactant protein A1 | |
| 24794 | Serpina3c | serine (or cysteine) proteinase inhibitor, clade A, member 3C |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34091 | Spn28Dc | Serpin 28Dc | |
| 34714 | Edem2 | ER degradation enhancer, mannosidase alpha-like 2 | |
| 36428 | Mdr49 | Multi drug resistance 49 | |
| 38326 | Pxn | Peroxidasin | |
| 38726 | Mdr65 | Multi drug resistance 65 | |
| 41549 | Octbeta2R | Octopamine beta2 receptor | |
| 42652 | Octbeta1R | Octopamine beta1 receptor | |
| 43222 | Tl | Toll | |
| 47905 | l(2)03659 | lethal (2) 03659 |
- 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 |
