@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns
> .
@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:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_head
{
this:
np:hasAssertion
dgn-np:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_assertion
;
np:hasProvenance
dgn-np:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_provenance
;
np:hasPublicationInfo
dgn-np:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_assertion
a
np:Assertion
.
dgn-np:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_provenance
a
np:Provenance
.
dgn-np:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_assertion
{
miriam-gene:3073
a
ncit:C16612
.
lld:C0002736
a
ncit:C7057
.
dgn-gda:DGN188a860a173323730c66752848f84eb3
sio:SIO_000628
miriam-gene:3073
,
lld:C0002736
;
a
sio:SIO_001121
.
}
dgn-np:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_provenance
{
dgn-np:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_assertion
dcterms:description
"[Genetic mutations have been identified in the major motor neuron diseases, including ALS, spinal muscular atrophy, bulbospinal muscular atrophy (Kennedy's disease), the hereditary spastic paraplegias, and rarer conditions such as GM2 gangliosidosis (hexosaminidase A deficiency).]. 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:11460829
;
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:NP899350.RA4uYr7gygUnFZMwMpEnrZU-aU963UgKvOTScal8aAgns130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:12+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" .
}