@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg
> .
@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:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_head
{
this:
np:hasAssertion
dgn-np:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_assertion
;
np:hasProvenance
dgn-np:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_provenance
;
np:hasPublicationInfo
dgn-np:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_assertion
a
np:Assertion
.
dgn-np:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_provenance
a
np:Provenance
.
dgn-np:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_assertion
{
miriam-gene:3925
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGN029b81a49efdb74bc2edfce61c4514a9
sio:SIO_000628
miriam-gene:3925
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_provenance
{
dgn-np:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_assertion
dcterms:description
"[Among diseases involving LMN degeneration, spinal muscular atrophy (SMA) and spinal bulbar muscular atrophy (Kennedy's disease, SBMA) are pure genetic diseases linked to loss of the SMN gene (SMA) or expansion of a polyglutamine tract in the androgen receptor gene (SBMA) while amyotrophic lateral sclerosis (ALS) can either be of genetic origin or occur sporadically.]. 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:20840067
;
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:NP838966.RA9kogdSxHPmyckVyIrAfxY8ovwwg5I3Af6L1ux-uP3yg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:05+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" .
}