@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0
> .
@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:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_head
{
this:
np:hasAssertion
dgn-np:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_assertion
;
np:hasProvenance
dgn-np:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_provenance
;
np:hasPublicationInfo
dgn-np:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_assertion
a
np:Assertion
.
dgn-np:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_provenance
a
np:Provenance
.
dgn-np:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_assertion
{
miriam-gene:4524
a
ncit:C16612
.
lld:C1834741
a
ncit:C7057
.
dgn-gda:DGN6c35b9cfff048972ca38aede3964b205
sio:SIO_000628
miriam-gene:4524
,
lld:C1834741
;
a
sio:SIO_001121
.
}
dgn-np:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_provenance
{
dgn-np:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_assertion
dcterms:description
"[The activity of the methylenetetrahydrofolate reductase (MTHFR) enzyme is regulated by the two polymorphisms C677T and A1298C, which reduce enzyme activity and result in hypomethylation of chromosomes that increase the risk of nondisjunction.]. 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:21198396
;
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:NP250013.RAgHPbJyXCRSTmvGUC_NZK_Uq60_lVZ86ChS-7ARRPEC0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:19+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" .
}