Statements (42)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Mendelian Inheritance in Man entry
|
| gptkbp:alternativeName |
gptkb:Mucoviscidosis
CF |
| gptkbp:containsGene |
gptkb:CFTR
|
| gptkbp:describes |
Cystic fibrosis, a disorder affecting the lungs, pancreas, and other organs
|
| gptkbp:firstDescribed |
1938
|
| gptkbp:frequency |
1 in 2,500 to 3,500 newborns (Caucasian population)
|
| gptkbp:hasCarrierFrequency |
1 in 25 (Caucasian population)
|
| gptkbp:hasClinicalFeature |
gptkb:sinusitis
gptkb:bronchiectasis gptkb:meconium_ileus failure to thrive nasal polyps recurrent lung infections male infertility fat malabsorption clubbing of fingers |
| gptkbp:hasDatabaseReference |
OMIM:219700
GeneReviews: Cystic Fibrosis Orphanet:586 |
| gptkbp:hasGeneProduct |
gptkb:CFTR_protein
|
| gptkbp:hasMostCommonMutation |
gptkb:ΔF508
|
| gptkbp:hasMutationType |
nonsense
deletion missense |
| gptkbp:hasPhenotype |
pancreatic insufficiency
elevated sweat chloride chronic respiratory infections |
| gptkbp:hasTestingMethod |
gptkb:sweat_chloride_test
genetic testing |
| https://www.w3.org/2000/01/rdf-schema#label |
MIM 109700
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
7q31.2
|
| gptkbp:OMIM |
219700
|
| gptkbp:prognosis |
reduced life expectancy
|
| gptkbp:refersTo |
gptkb:Cystic_Fibrosis
|
| gptkbp:treatment |
gptkb:CFTR_modulators
antibiotics pancreatic enzyme replacement airway clearance |
| gptkbp:bfsParent |
gptkb:P0CG47
|
| gptkbp:bfsLayer |
7
|