@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk
> .
@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:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_head
{
this:
np:hasAssertion
dgn-np:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_assertion
;
np:hasProvenance
dgn-np:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_provenance
;
np:hasPublicationInfo
dgn-np:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_assertion
a
np:Assertion
.
dgn-np:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_provenance
a
np:Provenance
.
dgn-np:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_assertion
{
miriam-gene:4210
a
ncit:C16612
.
lld:C0002986
a
ncit:C7057
.
dgn-gda:DGN9f0fd1b8ec044911d2d0ccda11c306f2
sio:SIO_000628
miriam-gene:4210
,
lld:C0002986
;
a
sio:SIO_001121
.
}
dgn-np:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_provenance
{
dgn-np:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_assertion
dcterms:description
"[We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF and FD, respectively, in 42 unrelated patients diagnosed with FMF, which revealed significant ambiguity regarding some of the symptoms which are also present in FD.]. 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:22905681
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP311165.RAp7CeCzIXGtxJIZi3SLBYEYogRc-_kU6NXlRm9etZNjk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:58+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" .
}