@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0
> .
@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:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_head
{
this:
np:hasAssertion
dgn-np:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_assertion
;
np:hasProvenance
dgn-np:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_provenance
;
np:hasPublicationInfo
dgn-np:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_assertion
a
np:Assertion
.
dgn-np:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_provenance
a
np:Provenance
.
dgn-np:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_assertion
{
miriam-gene:875
a
ncit:C16612
.
lld:C0016412
a
ncit:C7057
.
dgn-gda:DGN0e1871757f0693ed4706c8043ff30a05
sio:SIO_000628
miriam-gene:875
,
lld:C0016412
;
a
sio:SIO_001121
.
}
dgn-np:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_provenance
{
dgn-np:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_assertion
dcterms:description
"[Taking into consideration that in the one-carbon metabolism cystathionine beta-synthase (CBS) catalyzes Hcy in an irreversible way, and that CBS gene is located in chromosome 21, fetuses and infants with DS have functional folate deficiency due to overexpression of CBS.]. 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:16575899
;
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:NP488491.RAwVNcVm8iBjYRQ86s2rK_6djAFDzTQoTVV_0KZVJtBH0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:52+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" .
}