@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0
> .
@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:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_head
{
this:
np:hasAssertion
dgn-np:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_assertion
;
np:hasProvenance
dgn-np:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_provenance
;
np:hasPublicationInfo
dgn-np:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_assertion
a
np:Assertion
.
dgn-np:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_provenance
a
np:Provenance
.
dgn-np:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_assertion
{
miriam-gene:5286
a
ncit:C16612
.
lld:C0030552
a
ncit:C7057
.
dgn-gda:DGNa812dc04dea30400a9d8d249c3d3d2d7
sio:SIO_000628
miriam-gene:5286
,
lld:C0030552
;
a
sio:SIO_001121
.
}
dgn-np:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_provenance
{
dgn-np:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_assertion
dcterms:description
"[Two brothers had intermittent episodes of muscle weakness, lethargy, hyperammonemia, rhabdomyolysis, and elevated activities of creatine phosphokinase (CPK), lactic dehydrogenase, and SGOT in serum associated with low muscle carnitine but normal serum carnitine concentrations.]. 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:7091087
;
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:NP644060.RAxYV4-lFJOTOZ5VNtYeEqcd_-Rflg1ksczn23R2e2YN0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:28+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" .
}