@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM
> .
@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:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_head
{
this:
np:hasAssertion
dgn-np:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_assertion
;
np:hasProvenance
dgn-np:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_provenance
;
np:hasPublicationInfo
dgn-np:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_assertion
a
np:Assertion
.
dgn-np:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_provenance
a
np:Provenance
.
dgn-np:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_assertion
{
miriam-gene:8140
a
ncit:C16612
.
lld:C1396243
a
ncit:C7057
.
dgn-gda:DGNe93c5f57363488346702171bacc2ac80
sio:SIO_000628
miriam-gene:8140
,
lld:C1396243
;
a
sio:SIO_001121
.
}
dgn-np:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_provenance
{
dgn-np:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_assertion
dcterms:description
"[Lysinuric protein intolerance (LPI) is an inherited defect of cationic amino acid (lysine, arginine and ornithine) transport at the basolateral membrane of intestinal and renal tubular cells caused by mutations in SLC7A7 encoding the y(+)LAT1 protein.]. 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:22402328
;
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:NP813663.RA7WiXHvRFdcl9MxBivXKPMQh_S1dsp1Ham4dtcHV08OM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:19+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" .
}