@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0
> .
@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:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_head
{
this:
np:hasAssertion
dgn-np:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_assertion
;
np:hasProvenance
dgn-np:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_provenance
;
np:hasPublicationInfo
dgn-np:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_assertion
a
np:Assertion
.
dgn-np:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_provenance
a
np:Provenance
.
dgn-np:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_assertion
{
miriam-gene:847
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN6f5029b348a2b7829af500a99741e676
sio:SIO_000628
miriam-gene:847
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_provenance
{
dgn-np:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_assertion
dcterms:description
"[These and 34 case reports from the literature are discussed with respect to: sex ratio, maternal age, type of chromosomal imbalance and frequency of associated rearrangements, prevalence of aniridia and other eye disorders, predisposition to tumor development, genitourinary anomalies, growth and mental retardation, and catalase involvement.]. 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:6094051
;
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:NP383688.RA-V_GELe5WtkTScC5a_oiUOH-ZVpoEcfht4DPbMnRXj0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:48+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" .
}