@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg
> .
@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:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_head
{
this:
np:hasAssertion
dgn-np:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_assertion
;
np:hasProvenance
dgn-np:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_provenance
;
np:hasPublicationInfo
dgn-np:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_assertion
a
np:Assertion
.
dgn-np:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_provenance
a
np:Provenance
.
dgn-np:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_assertion
{
miriam-gene:4671
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGNb441e7626104b8507a4c3fef2bc879fd
sio:SIO_000628
miriam-gene:4671
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_provenance
{
dgn-np:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_assertion
dcterms:description
"[Childhood-onset autosomal recessive spinal muscular atrophy (SMA) is associated with absence of the telomeric survival motor neuron gene (SMNt) in most patients, and deletion of the neuronal apoptosis inhibitory protein (NAIP) gene in the majority of severely affected patients.]. 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:9801871
;
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:NP239962.RAykslh6wpinFPObP_B8E8TVRRSrRl_TZNv-LZzFbXCVg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:14+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" .
}