@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY
> .
@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:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_head
{
this:
np:hasAssertion
dgn-np:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_assertion
;
np:hasProvenance
dgn-np:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_provenance
;
np:hasPublicationInfo
dgn-np:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_assertion
a
np:Assertion
.
dgn-np:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_provenance
a
np:Provenance
.
dgn-np:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_assertion
{
miriam-gene:8929
a
ncit:C16612
.
lld:C0019569
a
ncit:C7057
.
dgn-gda:DGNabbbb4db41ae5460fd0523616ff7280b
sio:SIO_000628
miriam-gene:8929
,
lld:C0019569
;
a
sio:SIO_001121
.
}
dgn-np:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_provenance
{
dgn-np:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_assertion
dcterms:description
"[We describe an infant who had congenital central hypoventilation syndrome with Hirschsprung's disease and was delivered at 26 weeks' gestational age and had total aganglionosis of the bowel, failure to wean from ventilation, and a mutation in the PHOX2B 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:15930201
;
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:NP575764.RADHzTureOkWeya6xMkEjoaW-BQFIA-iqU4lc9RQZaUOY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:47+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" .
}