@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0
> .
@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:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_head
{
this:
np:hasAssertion
dgn-np:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_assertion
;
np:hasProvenance
dgn-np:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_provenance
;
np:hasPublicationInfo
dgn-np:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_assertion
a
np:Assertion
.
dgn-np:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_provenance
a
np:Provenance
.
dgn-np:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_assertion
{
miriam-gene:6607
a
ncit:C16612
.
lld:C0030552
a
ncit:C7057
.
dgn-gda:DGN8700348652605fe4a77d3a607e02f25e
sio:SIO_000628
miriam-gene:6607
,
lld:C0030552
;
a
sio:SIO_001121
.
}
dgn-np:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_provenance
{
dgn-np:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_assertion
dcterms:description
"[Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron 1 (SMN1) gene.]. 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:20025960
;
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:NP637199.RAUwW1by4-3u27rP35ADxbF_LeY4PV8x8sdYIi_R8fkl0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:24+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" .
}