@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk
> .
@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:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_head
{
this:
np:hasAssertion
dgn-np:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_assertion
;
np:hasProvenance
dgn-np:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_provenance
;
np:hasPublicationInfo
dgn-np:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_assertion
a
np:Assertion
.
dgn-np:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_provenance
a
np:Provenance
.
dgn-np:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_assertion
{
miriam-gene:8820
a
ncit:C16612
.
lld:C0032002
a
ncit:C7057
.
dgn-gda:DGNec9f95775515e89077d77c9a4ac3d83a
sio:SIO_000628
miriam-gene:8820
,
lld:C0032002
;
a
sio:SIO_001122
.
}
dgn-np:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_provenance
{
dgn-np:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_assertion
dcterms:description
"[The presence of a heterozygous HESX1 mutation in one case suggests this gene is important in the development of both ectopic posterior pituitary lobe and periventricular heterotopia and supports their place in the spectrum of septo-optic dysplasia.]. 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:12372734
;
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:NP370437.RAyRDkAOwvK5fTom7pXFSt5Ng0Y0jh7grO3VH-6p25Zqk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:33+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" .
}