@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w
> .
@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:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_head
{
this:
np:hasAssertion
dgn-np:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_assertion
;
np:hasProvenance
dgn-np:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_provenance
;
np:hasPublicationInfo
dgn-np:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_assertion
a
np:Assertion
.
dgn-np:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_provenance
a
np:Provenance
.
dgn-np:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_assertion
{
miriam-gene:50964
a
ncit:C16612
.
lld:C0015464
a
ncit:C7057
.
dgn-gda:DGN8f0eb713a51d2d11acbc673621b3b63f
sio:SIO_000628
miriam-gene:50964
,
lld:C0015464
;
a
sio:SIO_001121
.
}
dgn-np:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_provenance
{
dgn-np:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_assertion
dcterms:description
"[Related to cranial vascular and neural foraminal narrowing and reduced intracranial volume, affected patients with sclerosteosis demonstrate frequent seventh nerve palsy, progressive optic and cranial neuropathies, mixed hearing loss, brainstem compression, intracranial hypertension with increased elastance, and sudden, premature death.]. 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:6681869
;
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:NP405668.RA5p144KNyfaGfzibRVRhd0UF9wbWRuEAG5zKNU7H2P7w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:01+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" .
}