@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_head
{
this:
np:hasAssertion
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_assertion
;
np:hasProvenance
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_assertion
a
np:Assertion
.
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_provenance
a
np:Provenance
.
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_assertion
{
miriam-gene:4598
a
ncit:C16612
.
lld:C0342731
a
ncit:C7057
.
dgn-gda:DGN483fcf1ec95cc3e1d958e9af2e5ab9e8
sio:SIO_000628
miriam-gene:4598
,
lld:C0342731
;
a
sio:SIO_001121
.
}
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_provenance
{
dgn-np:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_assertion
dcterms:description
"[In selected cases, childhood's recurrent fevers of unknown origin can be referred to systemic autoinflammatory diseases as mevalonate kinase deficiency (MKD), caused by mutations in the mevalonate kinase gene (MVK), previously named hyper-IgD syndrome due to its characteristic increase in serum IgD level.]. 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:23239036
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1035996.RAuqN_PL5MlRNwS2lFn6kZpHz_04bzUv-n1MJ2vMWz9HI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:35+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}