@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo
> .
@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#
> .
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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#
> .
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{
this:
np:hasAssertion
dgn-np:NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo130_assertion
a
np:Assertion
.
dgn-np:NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo130_provenance
a
np:Provenance
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dgn-np:NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo130_assertion
{
miriam-gene:1376
a
ncit:C16612
.
lld:C0678236
a
ncit:C7057
.
dgn-gda:DGNa92ee27745c801cb1ff7abb2953bdfe9
sio:SIO_000628
miriam-gene:1376
,
lld:C0678236
;
a
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.
}
dgn-np:NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo130_provenance
{
dgn-np:NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo130_assertion
dcterms:description
"[The most recent ones are enzymatic replacement therapy (ERT) in glycogenosis type II in both the infantile, juvenile and the adult forms, targeted manipulation of diet that has been tried in glycogenosis type II (Pompe disease), type V (McArdle's disease), and in Carnitine palmitoyl transferase 2 (CPT 2) deficiency, a rare disorder of fatty acid oxidation.]. 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:20356791
;
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:NP321973.RAVmxbNeWAFXBlgbFdPW2kD2Fc6sOFOhJ0tTY3ldZe4uo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:08+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
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<
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
> ;
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