@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw
> .
@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:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_head
{
this:
np:hasAssertion
dgn-np:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_assertion
;
np:hasProvenance
dgn-np:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_provenance
;
np:hasPublicationInfo
dgn-np:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_assertion
a
np:Assertion
.
dgn-np:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_provenance
a
np:Provenance
.
dgn-np:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_assertion
{
miriam-gene:161003
a
ncit:C16612
.
lld:C0338656
a
ncit:C7057
.
dgn-gda:DGN14941a1c2d94b6d7c226d68c556f40f2
sio:SIO_000628
miriam-gene:161003
,
lld:C0338656
;
a
sio:SIO_001121
.
}
dgn-np:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_provenance
{
dgn-np:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_assertion
dcterms:description
"[Patients with deletion of SRO I manifested variable degrees of cognitive impairment, gait disturbance and distinct, similar facial dysmorphic features (prominent supraorbital ridges, deep set eyes, dark infraorbital circles and midface hypoplasia) that might be ascribed to the haploinsufficiency of JARID2.]. 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:23294540
;
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:NP739577.RAd6T2BvxVPHqPYN-zFRquUDkkLQghPi3awuqHkIpuCIw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:28+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" .
}