@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ
> .
@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:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_head
{
this:
np:hasAssertion
dgn-np:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_assertion
;
np:hasProvenance
dgn-np:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_assertion
a
np:Assertion
.
dgn-np:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_provenance
a
np:Provenance
.
dgn-np:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_assertion
{
miriam-gene:7546
a
ncit:C16612
.
lld:C0079541
a
ncit:C7057
.
dgn-gda:DGNfde8796a06241dd67e928f7acdc2a5ac
sio:SIO_000628
miriam-gene:7546
,
lld:C0079541
;
a
sio:SIO_001121
.
}
dgn-np:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_provenance
{
dgn-np:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_assertion
dcterms:description
"[Hemizygosity for ZIC2, which is located in the 13q32 critical deletion region, results in holoprosencephaly (HPE) in humans, and diminished expression of ZIC2 results in HPE as well as lumbosacral NTDs in mice.]. 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:11857562
;
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:NP348239.RAZQ5G501cQXDKWYUU-X86RqY93w_YWjyh_XcQ6fVgYPQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:24+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" .
}