@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ
> .
@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/v3.0.0/void/
> .
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_head
{
this:
np:hasAssertion
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_assertion
;
np:hasProvenance
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_assertion
a
np:Assertion
.
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_provenance
a
np:Provenance
.
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_assertion
{
miriam-gene:51293
a
ncit:C16612
.
lld:C0027794
a
ncit:C7057
.
dgn-gda:DGN1df447986effa6acc589210ace307b0c
sio:SIO_000628
miriam-gene:51293
,
lld:C0027794
;
a
sio:SIO_001122
.
}
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_provenance
{
dgn-np:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_assertion
dcterms:description
"[TCblR rs2336573 (G220R) and TCblR rs9426 represent a significant risk factor in NTD cases in the Irish population. The homozygous risk genotype was not detected in nearly 1000 controls, indicating that this NTD risk factor may be of low frequency and high]. 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:20577008
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP146262.RAhTrwhWL8C5VLrkkqj1JkOhPXaUu4Ior6V6DldipW-TQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:39:02+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}