Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
OMIM entry
|
| gptkbp:associatedWith |
gptkb:Cystic_Fibrosis
|
| gptkbp:category |
genetic disorder
autosomal recessive disease monogenic disease |
| gptkbp:firstDescribed |
1938
|
| gptkbp:gene |
gptkb:CFTR
|
| gptkbp:hasPhenotype |
male infertility
elevated sweat chloride chronic pulmonary disease exocrine pancreatic insufficiency |
| https://www.w3.org/2000/01/rdf-schema#label |
OMIM 109700
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
7q31.2
|
| gptkbp:mutationAssociatedWith |
gptkb:ΔF508
gptkb:G542X gptkb:G551D |
| gptkbp:OMIM |
109700
|
| gptkbp:OMIM_gene_ID |
602421
|
| gptkbp:OMIM_phenotype_mapping_key |
#
|
| gptkbp:otherName |
gptkb:Mucoviscidosis
CF |
| gptkbp:title |
gptkb:Cystic_Fibrosis
|
| gptkbp:bfsParent |
gptkb:P0CG47
|
| gptkbp:bfsLayer |
7
|