@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0
> .
@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:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_head
{
this:
np:hasAssertion
dgn-np:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_assertion
;
np:hasProvenance
dgn-np:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_provenance
;
np:hasPublicationInfo
dgn-np:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_assertion
a
np:Assertion
.
dgn-np:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_provenance
a
np:Provenance
.
dgn-np:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_assertion
{
miriam-gene:64221
a
ncit:C16612
.
lld:C0559260
a
ncit:C7057
.
dgn-gda:DGN978e3e482347389b7ab50d137838ceb0
sio:SIO_000628
miriam-gene:64221
,
lld:C0559260
;
a
sio:SIO_001121
.
}
dgn-np:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_provenance
{
dgn-np:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_assertion
dcterms:description
"[Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterised by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to decussate in the medulla.]. 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:16525029
;
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:NP906403.RAMzsH7U53tA9Kt0eS9wtYd-WXAIO78qUyPxU-grr1lu0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:16+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" .
}