@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_head
{
this:
np:hasAssertion
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_assertion
;
np:hasProvenance
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_provenance
;
np:hasPublicationInfo
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_assertion
a
np:Assertion
.
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_provenance
a
np:Provenance
.
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0010674
a
ncit:C7057
.
dgn-gda:DGN408c2613c50ef542f563743b55d4e2f1
sio:SIO_000628
miriam-gene:1080
,
lld:C0010674
;
a
sio:SIO_001122
.
}
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_provenance
{
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_assertion
dcterms:description
"[A high number of mutations associated with cystic fibrosis have been identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, most of which are rare and, therefore, hamper extensive molecular diagnosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:19728845
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP46860.RAOeUUM41lOKxGEMFFdCI6BaRMeG0ohDLDDZFV2FITL0I130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:21+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}