@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA
> .
@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:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_head
{
this:
np:hasAssertion
dgn-np:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_assertion
;
np:hasProvenance
dgn-np:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance
;
np:hasPublicationInfo
dgn-np:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_assertion
a
np:Assertion
.
dgn-np:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance
a
np:Provenance
.
dgn-np:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_assertion
{
miriam-gene:2006
a
ncit:C16612
.
lld:C0003499
a
ncit:C7057
.
dgn-gda:DGNacabf25fc431a9ce63f28dae86da6d38
sio:SIO_000628
miriam-gene:2006
,
lld:C0003499
;
a
sio:SIO_001121
.
}
dgn-np:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_provenance
{
dgn-np:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_assertion
dcterms:description
"[Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features.]. 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:19568270
;
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:NP748547.RAYyBf_w8Cox8wc4f_8HSBmgvA52MSbGKqTnAgpUzjBsA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:24+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: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" .
}