@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE
> .
@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:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_head
{
this:
np:hasAssertion
dgn-np:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_assertion
;
np:hasProvenance
dgn-np:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_provenance
;
np:hasPublicationInfo
dgn-np:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_assertion
a
np:Assertion
.
dgn-np:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_provenance
a
np:Provenance
.
dgn-np:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:7298
a
ncit:C16612
.
lld:C0080178
a
ncit:C7057
.
dgn-gda:DGN0c7075bcfdd21d314cc0ec20d6d7c696
sio:SIO_000628
miriam-gene:7298
,
lld:C0080178
;
a
sio:SIO_001121
.
}
dgn-np:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_provenance
{
dgn-np:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_assertion
dcterms:description
"[With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3).]. 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:19493349
;
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:NP437255.RARpZpAvwT_8NnX2sNKIg90hV6ktx1D77AJGfP5OzB0mE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:19+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" .
}