@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc
> .
@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:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_head
{
this:
np:hasAssertion
dgn-np:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_assertion
;
np:hasProvenance
dgn-np:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_provenance
;
np:hasPublicationInfo
dgn-np:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_assertion
a
np:Assertion
.
dgn-np:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_provenance
a
np:Provenance
.
dgn-np:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_assertion
{
miriam-gene:25824
a
ncit:C16612
.
lld:C0020630
a
ncit:C7057
.
dgn-gda:DGN83502f45c01b0525c43cebdc5d19ff33
sio:SIO_000628
miriam-gene:25824
,
lld:C0020630
;
a
sio:SIO_001121
.
}
dgn-np:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_provenance
{
dgn-np:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_assertion
dcterms:description
"[Because abnormalities in PLP metabolism have been shown to cause epileptic seizures in mice null for the TNAP gene, these kinetic data help explain the variable expressivity of epileptic seizures in hypophosphatasia 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:12162492
;
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:NP496302.RAxvhxQrroK-uMcCTi2m_MdTPpXejswmSbuUQ83SVPThc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:56+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" .
}