@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk
> .
@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:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_head
{
this:
np:hasAssertion
dgn-np:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_assertion
;
np:hasProvenance
dgn-np:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_provenance
;
np:hasPublicationInfo
dgn-np:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_assertion
a
np:Assertion
.
dgn-np:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_provenance
a
np:Provenance
.
dgn-np:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_assertion
{
miriam-gene:5626
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGNbeb1a5e048576358dd50631d417406d0
sio:SIO_000628
miriam-gene:5626
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_provenance
{
dgn-np:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_assertion
dcterms:description
"[We recommend that patients with GH deficiency and ocular malformation in whom genetic analysis for classic transcription factor genes (PROP1, POU1F1, HESX1, and LHX4) failed to identify alterations should be checked for the presence of mutations in the OTX2 gene.]. 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:20396904
;
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:NP629259.RA0JUu6ztXln11cmoQfYMINAyRdVd5I7Fibs5SR11B4Tk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:19+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" .
}