@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_head
{
this:
np:hasAssertion
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_assertion
;
np:hasProvenance
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_provenance
;
np:hasPublicationInfo
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_assertion
a
np:Assertion
.
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_provenance
a
np:Provenance
.
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_assertion
{
miriam-gene:4524
a
ncit:C16612
.
lld:C0598608
a
ncit:C7057
.
dgn-gda:DGN022786a9ce9f1519a271f15a50216333
sio:SIO_000628
miriam-gene:4524
,
lld:C0598608
;
a
sio:SIO_001121
.
}
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_provenance
{
dgn-np:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_assertion
dcterms:description
"[Methylenetetrahydrofolate reductase (MTHFR) mutations are commonly associated with hyperhomocysteinemia, and, through their defects in homocysteine metabolism, they have been implicated as risk factors for neural tube defects and unexplained, recurrent embryo losses in early pregnancy.]. 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:10958762
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP293152.RAxgZYk_Arxzsi1Wvx1y88rLMDS4wdLpAOGA6dj-RR5jk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:58+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}