@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo
> .
@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:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_head
{
this:
np:hasAssertion
dgn-np:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_assertion
;
np:hasProvenance
dgn-np:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_provenance
;
np:hasPublicationInfo
dgn-np:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_assertion
a
np:Assertion
.
dgn-np:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_provenance
a
np:Provenance
.
dgn-np:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0265354
a
ncit:C7057
.
dgn-gda:DGNd02534b11b04dda11e088aee2b7394a5
sio:SIO_000628
miriam-gene:55636
,
lld:C0265354
;
a
sio:SIO_001121
.
}
dgn-np:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_provenance
{
dgn-np:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_assertion
dcterms:description
"[These features are similar to those of gene enhancer elements, raising the possibility that CHD7 functions in enhancer mediated transcription, and that the congenital anomalies in CHARGE syndrome are due to alterations in transcription of tissue-specific genes normally regulated by CHD7 during development.]. 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:19251738
;
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:NP222707.RAz2dZhlqG0OjCZT1Fxpb6gP0v210VOTw9EiIMvVVe8oo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:03+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" .
}