@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_head
{
this:
np:hasAssertion
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_assertion
;
np:hasProvenance
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_provenance
;
np:hasPublicationInfo
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_assertion
a
np:Assertion
.
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_provenance
a
np:Provenance
.
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_assertion
{
miriam-gene:174
a
ncit:C16612
.
lld:C0442874
a
ncit:C7057
.
dgn-gda:DGNa0abac321dcf57996eeb66c11180156a
sio:SIO_000628
miriam-gene:174
,
lld:C0442874
;
a
sio:SIO_001121
.
}
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_provenance
{
dgn-np:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_assertion
dcterms:description
"[There are at least four neurodegenerative disorders, all inherited as autosomal recessive traits and characterized by the presence of cerebellar ataxia, abnormal ocular movements, and neuropathy, for which an elevated concentration of serum AFP is an important diagnostic biomarker.]. 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:24120489
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1118532.RADCH92jTXziqORL2U5U8d2dnoOSt5omAnn7HxSw0SV3I130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:13+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}