@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY
> .
@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:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_head
{
this:
np:hasAssertion
dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_assertion
;
np:hasProvenance
dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_provenance
;
np:hasPublicationInfo
dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_assertion
a
np:Assertion
.
dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_provenance
a
np:Provenance
.
dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_assertion
{
miriam-gene:2717
a
ncit:C16612
.
lld:C0031069
a
ncit:C7057
.
dgn-gda:DGN5394a2189204e6d08de9c4e04fb317df
sio:SIO_000628
miriam-gene:2717
,
lld:C0031069
;
a
sio:SIO_001121
.
}
dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_provenance
{
dgn-np:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_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:NP240570.RAbDDeddp0ZY7m7ywNTIWDFROce3PYg_D7OJBjFaL3xlY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:14+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" .
}