@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA
> .
@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:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_head
{
this:
np:hasAssertion
dgn-np:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_assertion
;
np:hasProvenance
dgn-np:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_provenance
;
np:hasPublicationInfo
dgn-np:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_assertion
a
np:Assertion
.
dgn-np:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_provenance
a
np:Provenance
.
dgn-np:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_assertion
{
miriam-gene:4598
a
ncit:C16612
.
lld:C1959626
a
ncit:C7057
.
dgn-gda:DGN463d0d43ff4f52750a3448c69804c905
sio:SIO_000628
miriam-gene:4598
,
lld:C1959626
;
a
sio:SIO_001121
.
}
dgn-np:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_provenance
{
dgn-np:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_assertion
dcterms:description
"[Although the MK activity in cells and mevalonic acid concentrations in urine are strongly aberrant and comparable to that in patients with systemic mevalonate kinase deficiency (MKD), only mild clinical symptoms related to this syndrome were observed in our patients.]. 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:24084495
;
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:NP458836.RAMRqdTR1cClOHZXLgPKa66YrQSG1ofjykzqohKK_Y4TA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:33+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" .
}