@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw
> .
@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:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_head
{
this:
np:hasAssertion
dgn-np:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_assertion
;
np:hasProvenance
dgn-np:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_provenance
;
np:hasPublicationInfo
dgn-np:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_assertion
a
np:Assertion
.
dgn-np:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_provenance
a
np:Provenance
.
dgn-np:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_assertion
{
miriam-gene:4210
a
ncit:C16612
.
lld:C0221014
a
ncit:C7057
.
dgn-gda:DGN4e88e4ad784ff4cc40f3e6d977057785
sio:SIO_000628
miriam-gene:4210
,
lld:C0221014
;
a
sio:SIO_001121
.
}
dgn-np:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_provenance
{
dgn-np:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_assertion
dcterms:description
"[The presence of two mutations in the familial Mediterranean fever gene, without overt familial Mediterranean fever (FMF), designated as phenotype III, predisposes to developing 'silent' AA amyloidosis, recognized as phenotype II, due to the absence of medical supervision and colchicine prophylaxis.]. 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:21995303
;
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:NP610449.RAH28amPnVGWPvdRyXmeQ2AGxlVq1tItSD-iglpmaptWw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:06+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" .
}