@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8
> .
@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:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_head
{
this:
np:hasAssertion
dgn-np:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_assertion
;
np:hasProvenance
dgn-np:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_provenance
;
np:hasPublicationInfo
dgn-np:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_assertion
a
np:Assertion
.
dgn-np:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_provenance
a
np:Provenance
.
dgn-np:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_assertion
{
miriam-gene:50964
a
ncit:C16612
.
lld:C0010266
a
ncit:C7057
.
dgn-gda:DGNfb43a717e1abf72de2ee24d0cafd70f4
sio:SIO_000628
miriam-gene:50964
,
lld:C0010266
;
a
sio:SIO_001121
.
}
dgn-np:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_provenance
{
dgn-np:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_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:NP409670.RAVMaatwWm8-9HDI9TQgtQV02o_l0vHLiyn0itZGqkXB8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:03+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" .
}