@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg
> .
@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:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_head
{
this:
np:hasAssertion
dgn-np:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_assertion
;
np:hasProvenance
dgn-np:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_provenance
;
np:hasPublicationInfo
dgn-np:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_assertion
a
np:Assertion
.
dgn-np:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_provenance
a
np:Provenance
.
dgn-np:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0009363
a
ncit:C7057
.
dgn-gda:DGN8a079f311a68b5c0f96953cce85aa3fa
sio:SIO_000628
miriam-gene:55636
,
lld:C0009363
;
a
sio:SIO_001121
.
}
dgn-np:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_provenance
{
dgn-np:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_assertion
dcterms:description
"[A patient with the CHARGE association (Coloboma of the eye, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or deafness) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and Joubert syndrome.]. 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:1981467
;
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:NP162159.RAm_ZXEEf5EnWIT4jKLZeaJqlecs55NnHkFPWmI_HDzCg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:27+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" .
}